GATA4 S377G - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(GATA4 Ser377Gly)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr8:11614575: 10.1% (1086/10758) in EVS
  • G @ chr8:11651983: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 10.1% (1086/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr8:11614575


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr8:11614575






hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr8:11614575


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:11614575



GS06985 - var-GS06985-1100-36-ASM
het G @ chr8:11651984


GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:11651984


Other external references

  • rs3729856
    Web search results (8 hits -- see all)
  • Isolation, characterization and genetic analysis of canine ...
    GATA4 is expressed early in the developing heart where it plays a key ... Additionally, the GATA4 S377G homozy- gous mutation appeared to be the cause for 7% of ...
  • GeneCanvas
    GATA4/-180/in4ins/del. GATA4/A+56/in4C. GATA4/A-108/in5G. GATA4/A-131 ... GATA4/C274C. GATA4/N352N. GATA4/S377G. GATA4/T-128/in4C. GATA4/T233T. GCGR/G40S. GNB3/S275S ...
  • SNPs Identified in GATA4
    S377G. A/G. G6270a11. 1985. chr8:11653531. 3' UTR. view. G/C. Download a ... and Genotyping > Candidate Gene List > GATA4 Main Page > SNPs Identified in GATA4 ...
  • Investigation Between the S377G3 GATA-4 Polymorphism and Migraine
    The S377G polymorphism (rs3729856) is located in exon 5 of GATA-4 gene and was ... Distribution of the S377G Polymorphism in Migraineurs and Controls of Original ...
  • Type II- 99%
    ... EFNB1 P98172 R154H 157 VAR_023142 RSK (0.866) 15166289 GATA4 P43694 S377G 381 VAR_038196 GSK (0.933) Polymorphism (dbSNP:rs3729856) CBS P35520 ...
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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