Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.S250F

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
25 papers
NM_004496.5
p.S250F
c.749C>T
Surrounding Variants
2 papers
NM_004496.5
p.S250Y
c.749C>A
1 paper
NM_004496.5
p.S250delins
c.748_749delinsCCGGACTT
1 paper
NM_004496.5
p.S250A
c.748T>G
1 paper
NM_004496.5
p.P248_D249del2
c.742_746del6
1 paper
NM_004496.5
p.S250fs
c.748_749fs
1 paper
NM_004496.5
p.G251R
c.751G>C
1 paper
NM_004496.5
p.D249E
c.747C>G
1 paper
NM_004496.5
p.D249E
c.747C>A
2 papers
NM_004496.5
p.G251fs
c.751_752fs
3 papers
NM_004496.5
p.D249V
c.746A>T
1 paper
NM_004496.5
p.D249A
c.746A>C
1 paper
NM_004496.5
p.G251fs
c.751_752fs
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