Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.S242C

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.S242C
c.725C>G
Surrounding Variants
1 paper
NM_004496.5
p.S242F
c.725C>T
2 papers
NM_004496.5
p.S242Y
c.725C>A
1 paper
NM_004496.5
p.S242P
c.724T>C
1 paper
NM_004496.5
p.G241V
c.722G>T
2 papers
NM_004496.5
p.Y243F
c.728A>T
1 paper
NM_004496.5
p.Y243S
c.728A>C
1 paper
NM_004496.5
p.S242_Y243del1
c.725_727delAGG
1 paper
NM_004496.5
p.G241S
c.721G>A
1 paper
NM_004496.5
p.Y243Y
c.729C>T
1 paper
NM_004496.5
p.W244R
c.730T>C
1 paper
NM_004496.5
p.W244R
c.730T>A
1 paper
NM_004496.5
p.S242_Y243del2
c.724_728del6
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