Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.F228L

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.F228L
c.684C>G
Surrounding Variants
1 paper
NM_004496.5
p.F228L
c.684C>A
1 paper
NM_004496.5
p.V229F
c.685G>T
1 paper
NM_004496.5
p.V229I
c.685G>A
1 paper
NM_004496.5
p.F228L
c.682T>C
1 paper
NM_004496.5
p.C227S
c.680G>C
1 paper
NM_004496.5
p.C227Y
c.680G>A
1 paper
NM_004496.5
p.K230fs
c.688_689fs
5 papers
NM_004496.5
p.C227R
c.679T>C
1 paper
NM_004496.5
p.C227S
c.679T>A
1 paper
NM_004496.5
p.K230fs
c.688_689fs
1 paper
NM_004496.5
p.D226D
c.678C>T
1 paper
NM_004496.5
p.V231fs
c.691_692fs
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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."