Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.I183M

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.I183M
c.549C>G
Surrounding Variants
1 paper
NM_004496.5
p.Q184fs
c.550_551fs
1 paper
NM_004496.5
p.I183V
c.547A>G
2 papers
NM_004496.5
p.Q184H
c.552G>T
2 papers
NM_004496.5
p.Q184H
c.552G>C
1 paper
NM_004496.5
p.Q185R
c.554A>G
1 paper
NM_004496.5
p.A186T
c.556G>A
1 paper
NM_004496.5
p.M181fs
c.541_542fs
4 papers
NM_004496.5
p.A186V
c.557C>T
2 papers
NM_004496.5
p.M181L
c.541A>T
2 papers
NM_004496.5
p.M181L
c.541A>C
1 paper
NM_004496.5
p.T180I
c.539C>T
2 papers
NM_004496.5
p.T180S
c.539C>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."