Varaico: Literature-Extracted Genetic Variants

Gene:FOXA1
Variant:p.G257D

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.G257D
c.770G>A
Surrounding Variants
1 paper
NM_004496.5
p.G257V
c.770G>T
1 paper
NM_004496.5
p.N256_G257insFs
c.768_769ins4
1 paper
NM_004496.5
p.G257S
c.769G>A
1 paper
NM_004496.5
p.N256del1
c.766_767delGTT
1 paper
NM_004496.5
p.F254_N256del3
c.760_767del9
2 papers
NM_004496.5
p.M253_N256del4
c.757_767del12
1 paper
NM_004496.5
p.G257fs
c.769_770fs
3 papers
NM_004496.5
p.C258R
c.772T>C
1 paper
NM_004496.5
p.E255_G257del3
c.763_770del9
2 papers
NM_004496.5
p.N252_G257del6
c.754_770del18
1 paper
NM_004496.5
p.N256fs
c.766_767fs
3 papers
NM_004496.5
p.C258Y
c.773G>A
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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."