Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.A131V

FOXA1

436 papers

RefSeq Summary

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyret...

Pfam Domains

Forkhead_Naa 17–169UCSCForkhead N-terminal region
Forkheadaa 169–255UCSCForkhead domain
HNF_Caa 397–461UCSCHNF3 C-terminal domain

Gene Aliases

HGNC Name

forkhead box A1

HGNC Previous Symbol

HNF3A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004496.5
p.A131V
c.392C>T
Surrounding Variants
1 paper
NM_004496.5
p.A131E
c.392C>A
1 paper
NM_004496.5
p.Y130fs
c.388_389fs
1 paper
NM_004496.5
p.G128D
c.383G>A
1 paper
NM_004496.5
p.N135D
c.403A>G
2 papers
NM_004496.5
p.N135K
c.405C>G
2 papers
NM_004496.5
p.N135K
c.405C>A
2 papers
NM_004496.5
p.P136T
c.406C>A
1 paper
NM_004496.5
p.P136R
c.407C>G
1 paper
NM_004496.5
p.P136Q
c.407C>A
1 paper
NM_004496.5
p.N125N
c.375T>C
1 paper
NM_004496.5
p.M138I
c.414G>T
1 paper
NM_004496.5
p.M138I
c.414G>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."