Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.I176M

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
14 papers
NM_004496.5
p.I176M
c.528C>G
Surrounding Variants
2 papers
NM_004496.5
p.S177A
c.529T>G
7 papers
NM_004496.5
p.S177L
c.530C>T
12 papers
NM_004496.5
p.I176V
c.526A>G
1 paper
NM_004496.5
p.S177insFs
c.530dupC
3 papers
NM_004496.5
p.Y175C
c.524A>G
3 papers
NM_004496.5
p.Y175N
c.523T>A
1 paper
NM_004496.5
p.L178fs
c.532_533fs
1 paper
NM_004496.5
p.S174L
c.521C>T
1 paper
NM_004496.5
p.S174*
c.521C>A
2 papers
NM_004496.5
p.S174A
c.520T>G
2 papers
NM_004496.5
p.S174T
c.520T>A
2 papers
NM_004496.5
p.T180S
c.538A>T
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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."