Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.A75S

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.A75S
c.223G>T
Surrounding Variants
1 paper
NM_004496.5
p.G74E
c.221G>A
1 paper
NM_004496.5
p.S78C
c.232A>T
1 paper
NM_004496.5
p.S78_P79insFs
c.234_235ins5
1 paper
NM_004496.5
p.P79fs
c.235_236fs
1 paper
NM_004496.5
p.G80S
c.238G>A
2 papers
NM_004496.5
p.G80D
c.239G>A
1 paper
NM_004496.5
p.A69T
c.205G>A
1 paper
NM_004496.5
p.Y68*
c.204T>A
1 paper
NM_004496.5
p.Y68F
c.203A>T
1 paper
NM_004496.5
p.Y68C
c.203A>G
1 paper
NM_004496.5
p.A81delFs
c.242_243delTG
22 papers
NM_004496.5
p.A83T
c.247G>A
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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."