Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.N147S

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
1 paper
NM_004496.5
p.N147S
c.440A>G
Surrounding Variants
8 papers
NM_004496.5
p.L148V
c.442C>G
1 paper
NM_004496.5
p.P145Q
c.434C>A
1 paper
NM_004496.5
p.A144T
c.430G>A
2 papers
NM_004496.5
p.S151R
c.451A>C
1 paper
NM_004496.5
p.Y143F
c.428A>T
2 papers
NM_004496.5
p.S151R
c.453C>G
1 paper
NM_004496.5
p.S151fs
c.451_452fs
2 papers
NM_004496.5
p.S151R
c.453C>A
1 paper
NM_004496.5
p.R152C
c.454C>T
2 papers
NM_004496.5
p.A153T
c.457G>A
3 papers
NM_004496.5
p.A153V
c.458C>T
1 paper
NM_004496.5
p.S139S
c.417C>T
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."