Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.R265_Q271del0

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.R265_Q271del0
c.794_811del18
Surrounding Variants
1 paper
NM_004496.5
p.P272T
c.814C>A
1 paper
NM_004496.5
p.Y259_Q271delFs
c.776_813del38
1 paper
NM_004496.5
p.P272L
c.815C>T
1 paper
NM_004496.5
p.Q271del1
c.811_812delCTG
1 paper
NM_004496.5
p.R265_Q271del7
c.793_812del21
1 paper
NM_004496.5
p.G273R
c.817G>C
2 papers
NM_004496.5
p.G273R
c.817G>A
3 papers
NM_004496.5
p.G273fs
c.817_818fs
3 papers
NM_004496.5
p.E269V
c.806A>T
1 paper
NM_004496.5
p.E269A
c.806A>C
1 paper
NM_004496.5
p.Q263_C268del6
c.787_803del18
1 paper
NM_004496.5
p.C268W
c.804C>G
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