Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.P193H

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
4 papers
NM_001308093.3
p.P193H
c.578C>A
Surrounding Variants
1 paper
NM_001308093.3
p.G194S
c.580G>A
1 paper
NM_001308093.3
p.S191G
c.571A>G
3 papers
NM_001308093.3
p.H190R
c.569A>G
3 papers
NM_001308093.3
p.N197S
c.590A>G
1 paper
NM_001308093.3
p.L189P
c.566T>C
2 papers
NM_001308093.3
p.P198S
c.592C>T
2 papers
NM_001308093.3
p.P198P
c.594G>A
1 paper
NM_001308093.3
p.R201*
c.601C>T
1 paper
NM_001308093.3
p.D185Y
c.553G>T
1 paper
NM_001308093.3
p.F184S
c.551T>C
3 papers
NM_001308093.3
p.H202Q
c.606C>G
1 paper
NM_001308093.3
p.P183L
c.548C>T
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