Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.L260V

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
1 paper
NM_004496.5
p.L260V
c.778T>G
Surrounding Variants
1 paper
NM_004496.5
p.M253_Y259del7
c.757_776del21
1 paper
NM_004496.5
p.D249_Y259del11
c.745_776del33
1 paper
NM_004496.5
p.L260fs
c.778_779fs
2 papers
NM_004496.5
p.L260S
c.779T>C
1 paper
NM_004496.5
p.Y259*
c.777C>G
1 paper
NM_004496.5
p.Y259*
c.777C>A
1 paper
NM_004496.5
p.M253_Y259Fs
c.758_777delinsAGTTFs
1 paper
NM_004496.5
p.Y259F
c.776A>T
6 papers
NM_004496.5
p.Y259C
c.776A>G
5 papers
NM_004496.5
p.Y259S
c.776A>C
1 paper
NM_004496.5
p.C258_Y259delFs
c.772_775del4
1 paper
NM_004496.5
p.Y259D
c.775T>G
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