Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.A83T

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
22 papers
NM_004496.5
p.A83T
c.247G>A
Surrounding Variants
2 papers
NM_004496.5
p.A83G
c.248C>G
1 paper
NM_004496.5
p.V82_A83insFs
c.244_247dup4
2 papers
NM_004496.5
p.G84R
c.250G>C
1 paper
NM_004496.5
p.A83delFs
c.248_249delGG
1 paper
NM_004496.5
p.A81delFs
c.242_243delTG
2 papers
NM_004496.5
p.M85L
c.253A>T
2 papers
NM_004496.5
p.M85L
c.253A>C
1 paper
NM_004496.5
p.A83_G84del1
c.249_251delCCG
1 paper
NM_004496.5
p.M85R
c.254T>G
1 paper
NM_004496.5
p.G84_M85delFs
c.252_253delTG
2 papers
NM_004496.5
p.G80D
c.239G>A
1 paper
NM_004496.5
p.G84_M85del1
c.252_254delATG
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