Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.L269L

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
1 paper
NM_002052.5
p.L269L
c.807C>T
Surrounding Variants
2 papers
NM_002052.5
p.C271S
c.811T>A
1 paper
NM_001308093.3
p.G269S
c.805G>A
2 papers
NM_002052.5
p.C271S
c.812G>C
4 papers
NM_002052.5
p.V267M
c.799G>A
2 papers
NM_001308093.3
p.A273A
c.819C>A
1 paper
NM_001308093.3
p.N274D
c.820A>G
6 papers
NM_002052.5
p.N273S
c.818A>G
4 papers
NM_002052.5
p.R266*
c.796C>T
2 papers
NM_002052.5
p.N273K
c.819C>A
2 papers
NM_002052.5
p.N273K
c.819C>G
4 papers
NM_001308093.3
p.N274N
c.822C>T
1 paper
NM_001308093.3
p.R266H
c.797G>A
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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."