Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.H247fs

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.H247fs
c.739_740fs
Surrounding Variants
15 papers
NM_004496.5
p.H247Y
c.739C>T
4 papers
NM_004496.5
p.H247N
c.739C>A
1 paper
NM_004496.5
p.L246fs
c.736_737fs
1 paper
NM_004496.5
p.L246L
c.738G>A
4 papers
NM_004496.5
p.H247L
c.740A>T
12 papers
NM_004496.5
p.H247R
c.740A>G
11 papers
NM_004496.5
p.H247Q
c.741C>G
11 papers
NM_004496.5
p.H247Q
c.741C>A
1 paper
NM_004496.5
p.P248fs
c.742_743fs
1 paper
NM_004496.5
p.P248S
c.742C>T
1 paper
NM_004496.5
p.W244_H247ins1
c.730_741dup12
1 paper
NM_004496.5
p.P248T
c.742C>A
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