Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.L3W

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.L3W
c.8T>G
Surrounding Variants
1 paper
NM_005257.6
p.M1I
c.3G>A
1 paper
NM_005257.6
p.M1I
c.3G>C
1 paper
NM_005257.6
p.D5H
c.13G>C
1 paper
NM_005257.6
p.M1I
c.3G>T
1 paper
NM_005257.6
p.D5_K12delFs
c.15_36del22
1 paper
NM_005257.6
p.M1T
c.2T>C
1 paper
NM_005257.6
p.M1R
c.2T>G
1 paper
NM_005257.6
p.M1insFs
c.2dupT
1 paper
NM_005257.6
p.M1L
c.1A>C
1 paper
NM_005257.6
p.M1L
c.1A>T
1 paper
NM_005257.6
p.D5E
c.15C>A
1 paper
NM_005257.6
p.D5E
c.15C>G
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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."