Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.G375R

GATA4

542 papers

RefSeq Summary

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is tho...

Pfam Domains

GATA-Naa 1–205UCSCGATA-type transcription activator, N-terminal
GATAaa 11–45UCSCGATA zinc finger
GATAaa 65–99UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 4

HGNC Previous Name

GATA-binding protein 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002052.5
p.G375R
c.1123G>C
Surrounding Variants
2 papers
NM_002052.5
p.G375R
c.1123G>A
2 papers
NM_001308093.3
p.Y375Y
c.1125C>T
1 paper
NM_001308093.3
p.H377Y
c.1129C>T
1 paper
NM_002052.5
p.H376Q
c.1128C>A
1 paper
NM_002052.5
p.H376Q
c.1128C>G
19 papers
NM_001308093.3
p.S378G
c.1132A>G
NM_002052.5
p.S377G
c.1129A>G
1 paper
NM_001308093.3
p.H374_Y375ins6
c.1120_1124ins18
1 paper
NM_002052.5
p.S377N
c.1130G>A
1 paper
NM_002052.5
p.S371S
c.1113A>G
2 papers
NM_001308093.3
p.S379I
c.1136G>T
2 papers
NM_001308093.3
p.S379S
c.1137C>T
1 paper
NM_002052.5
p.S379S
c.1137C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."