Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.M44T

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
2 papers
NM_004496.5
p.M44T
c.131T>C
Surrounding Variants
1 paper
NM_004496.5
p.M44V
c.130A>G
1 paper
NM_004496.5
p.S43T
c.127T>A
1 paper
NM_004496.5
p.M41R
c.122T>G
2 papers
NM_004496.5
p.Y47C
c.140A>G
1 paper
NM_004496.5
p.M48fs
c.142_143fs
1 paper
NM_004496.5
p.M48K
c.143T>A
1 paper
NM_004496.5
p.S40F
c.119C>T
1 paper
NM_004496.5
p.S40Y
c.119C>A
1 paper
NM_004496.5
p.M48I
c.144G>T
1 paper
NM_004496.5
p.M48I
c.144G>C
1 paper
NM_004496.5
p.M48I
c.144G>A
1 paper
NM_004496.5
p.G39R
c.115G>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."