Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.F254L

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
5 papers
NM_004496.5
p.F254L
c.762C>A
Surrounding Variants
5 papers
NM_004496.5
p.F254L
c.762C>G
1 paper
NM_004496.5
p.D249_F254delins
c.747_762delinsT
1 paper
NM_004496.5
p.F254C
c.761T>G
4 papers
NM_004496.5
p.F254S
c.761T>C
1 paper
NM_004496.5
p.G251_F254del0
c.752_760del9
1 paper
NM_004496.5
p.S250_F254del0
c.749_760del12
1 paper
NM_004496.5
p.E255*
c.763G>T
1 paper
NM_004496.5
p.E255Q
c.763G>C
3 papers
NM_004496.5
p.E255K
c.763G>A
1 paper
NM_004496.5
p.F254del1
c.760_761delGAA
1 paper
NM_004496.5
p.N252_F254del3
c.754_761del9
2 papers
NM_004496.5
p.S250_F254del5
c.748_761del15
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."