Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.R262C

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
5 papers
NM_004496.5
p.R262C
c.784C>T
Surrounding Variants
2 papers
NM_004496.5
p.R262S
c.784C>A
1 paper
NM_004496.5
p.R262fs
c.784_785fs
1 paper
NM_004496.5
p.N252_R261del10
c.754_782del30
3 papers
NM_004496.5
p.R262L
c.785G>T
2 papers
NM_004496.5
p.R262P
c.785G>C
6 papers
NM_004496.5
p.R262H
c.785G>A
2 papers
NM_004496.5
p.R261fs
c.781_782fs
1 paper
NM_004496.5
p.R261P
c.782G>C
6 papers
NM_004496.5
p.R261H
c.782G>A
1 paper
NM_004496.5
p.R262fs
c.784_785fs
2 papers
NM_004496.5
p.Q263fs
c.787_788fs
13 papers
NM_004496.5
p.R261C
c.781C>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."