Varaico: Literature-Extracted Genetic Variants

Gene:FOXA2
Variant:p.S138P

FOXA2

236 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 genes such as albumin and transthyretin, an...

Pfam Domains

Forkhead_Naa 16–158UCSCForkhead N-terminal region
Forkheadaa 158–244UCSCForkhead domain
HNF_Caa 373–446UCSCHNF3 C-terminal domain

Gene Aliases

HGNC Name

forkhead box A2

HGNC Previous Symbol

HNF3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021784.5
p.S138P
c.412T>C
Surrounding Variants
1 paper
NM_021784.5
p.M139T
c.416T>C
1 paper
NM_021784.5
p.M136fs
c.406_407fs
1 paper
NM_021784.5
p.M136L
c.406A>T
1 paper
NM_021784.5
p.M136L
c.406A>C
1 paper
NM_021784.5
p.N135S
c.404A>G
1 paper
NM_021784.5
p.A134insFs
c.401_402insCC
2 papers
NM_021784.5
p.M142fs
c.424_425fs
1 paper
NM_021784.5
p.Y133fs
c.397_398fs
2 papers
NM_021784.5
p.Y143C
c.428A>G
1 paper
NM_021784.5
p.Y143*
c.429C>G
2 papers
NM_021784.5
p.Y143*
c.429C>A
1 paper
NM_021784.5
p.G144R
c.430G>C
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