Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.H168Q

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
3 papers
NM_004496.5
p.H168Q
c.504C>A
Surrounding Variants
3 papers
NM_004496.5
p.H168Q
c.504C>G
1 paper
NM_004496.5
p.A169D
c.506C>A
2 papers
NM_004496.5
p.K170E
c.508A>G
1 paper
NM_004496.5
p.P167T
c.499C>A
1 paper
NM_004496.5
p.K170R
c.509A>G
1 paper
NM_004496.5
p.Y166*
c.498C>G
1 paper
NM_004496.5
p.Y166*
c.498C>A
2 papers
NM_004496.5
p.P171S
c.511C>T
1 paper
NM_004496.5
p.P171P
c.513G>A
2 papers
NM_004496.5
p.S165R
c.495C>G
2 papers
NM_004496.5
p.S165R
c.495C>A
3 papers
NM_004496.5
p.S165G
c.493A>G
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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."