Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.S280R

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.S280R
c.840C>G
Surrounding Variants
2 papers
NM_004496.5
p.S280R
c.840C>A
2 papers
NM_004496.5
p.S280R
c.838A>C
1 paper
NM_004496.5
p.G278_G279ins0
c.832_837dup6
1 paper
NM_004496.5
p.G279_G281ins1
c.837_842dup6
1 paper
NM_004496.5
p.S282fs
c.844_845fs
1 paper
NM_004496.5
p.K267_G278del0
c.799_834del36
1 paper
NM_004496.5
p.G283V
c.848G>T
1 paper
NM_004496.5
p.G278fs
c.832_833fs
1 paper
NM_004496.5
p.G284A
c.851G>C
1 paper
NM_004496.5
p.G284D
c.851G>A
2 papers
NM_004496.5
p.K267_G276del0
c.799_828del30
1 paper
NM_004496.5
p.A274_G284delFs
c.820_851del32
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."