Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S215fs

AHDC1

257 papers

RefSeq Summary

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014].

Pfam Domains

DUF4683aa 570–642UCSCDomain of unknown function (DUF4683)

Gene Aliases

HGNC Name

AT-hook DNA binding motif containing 1

HGNC Alias Symbols

DJ159A19.3; RP1-159A19.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001371928.1
p.S215fs
c.643_644fs
Surrounding Variants
3 papers
NM_001371928.1
p.S215insFs
c.643dupA
1 paper
NM_001371928.1
p.G217R
c.649G>C
1 paper
NM_001371928.1
p.G217R
c.649G>A
1 paper
NM_001371928.1
p.G211delFs
c.632delC
1 paper
NM_001371928.1
p.P210H
c.629C>A
1 paper
NM_001371928.1
p.P208fs
c.622_623fs
1 paper
NM_001371928.1
p.S207insFs
c.621dupT
1 paper
NM_001371928.1
p.E203G
c.608A>G
1 paper
NM_001371928.1
p.P226_P227insFs
c.677_680dup4
1 paper
NM_001371928.1
p.D232fs
c.694_695fs
1 paper
NM_001371928.1
p.D232_S233delFs
c.695_698del4
1 paper
NM_001371928.1
p.R192Q
c.575G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."