Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.G112R

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.G112R
c.334G>C
Surrounding Variants
1 paper
NM_004496.5
p.S111R
c.333C>G
1 paper
NM_004496.5
p.S111R
c.333C>A
1 paper
NM_004496.5
p.S111R
c.331A>C
1 paper
NM_004496.5
p.A115V
c.344C>T
1 paper
NM_004496.5
p.A107T
c.319G>A
1 paper
NM_004496.5
p.G105D
c.314G>A
1 paper
NM_004496.5
p.G105fs
c.313_314fs
1 paper
NM_004496.5
p.G105C
c.313G>T
1 paper
NM_004496.5
p.Q119*
c.355C>T
1 paper
NM_004496.5
p.Q119K
c.355C>A
1 paper
NM_004496.5
p.M104_G105insFs
c.312_313insC
2 papers
NM_004496.5
p.M104I
c.312G>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."