Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.R219S

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
18 papers
NM_004496.5
p.R219S
c.655C>A
Surrounding Variants
8 papers
NM_004496.5
p.R219C
c.655C>T
2 papers
NM_004496.5
p.I218I
c.654C>T
3 papers
NM_004496.5
p.S217F
c.650C>T
4 papers
NM_004496.5
p.H220Q
c.660C>G
4 papers
NM_004496.5
p.H220Q
c.660C>A
1 paper
NM_004496.5
p.S217P
c.649T>C
1 paper
NM_004496.5
p.S221L
c.662C>T
2 papers
NM_004496.5
p.W214C
c.642G>T
2 papers
NM_004496.5
p.W214C
c.642G>C
5 papers
NM_004496.5
p.F224L
c.670T>C
1 paper
NM_004496.5
p.R213L
c.638G>T
5 papers
NM_004496.5
p.F224L
c.672C>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."