Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.K12T

GATA6

404 papers

RefSeq Summary

This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. ...

Pfam Domains

GATA-Naa 147–378UCSCGATA-type transcription activator, N-terminal
GATAaa 390–424UCSCGATA zinc finger
GATAaa 444–478UCSCGATA zinc finger

Gene Aliases

HGNC Name

GATA binding protein 6

HGNC Previous Name

GATA-binding protein 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005257.6
p.K12T
c.35A>C
Surrounding Variants
1 paper
NM_005257.6
p.K12R
c.35A>G
1 paper
NM_005257.6
p.R13C
c.37C>T
2 papers
NM_005257.6
p.G15delFs
c.44delG
13 papers
NM_005257.6
p.G15R
c.43G>A
13 papers
NM_005257.6
p.G15R
c.43G>C
1 paper
NM_005257.6
p.W8C
c.24G>C
1 paper
NM_005257.6
p.W8C
c.24G>T
1 paper
NM_005257.6
p.W8L
c.23G>T
1 paper
NM_005257.6
p.A17T
c.49G>A
1 paper
NM_005257.6
p.G18R
c.52G>C
1 paper
NM_005257.6
p.G18D
c.53G>A
1 paper
NM_005257.6
p.G6R
c.16G>C
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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."