Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.Y53*

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_001308093.3
p.Y53*
c.159C>A
Surrounding Variants
1 paper
NM_001308093.3
p.Y53*
c.159C>G
1 paper
NM_001308093.3
p.Y53F
c.158A>T
25 papers
NM_001308093.3
p.S52F
c.155C>T
4 papers
NM_001308093.3
p.Q55R
c.164A>G
4 papers
NM_001308093.3
p.L51V
c.151C>G
1 paper
NM_001308093.3
p.G56D
c.167G>A
1 paper
NM_001308093.3
p.G56A
c.167G>C
1 paper
NM_001308093.3
p.G57R
c.169G>A
3 papers
NM_001308093.3
p.G50A
c.149G>C
1 paper
NM_001308093.3
p.G57ins3
c.170_171ins9
1 paper
NM_001308093.3
p.G58D
c.173G>A
1 paper
NM_001308093.3
p.S47Y
c.140C>A
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