Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S172fs

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
1 paper
NM_001371928.1
p.S172fs
c.514_515fs
Surrounding Variants
3 papers
NM_001371928.1
p.S172insFs
c.514dupA
2 papers
NM_001371928.1
p.S172fs
c.514_515fs
1 paper
NM_001371928.1
p.S169F
c.506C>T
1 paper
NM_001371928.1
p.G161S
c.481G>A
1 paper
NM_001371928.1
p.P160L
c.479C>T
1 paper
NM_001371928.1
p.A184delFs
c.550delC
1 paper
NM_001371928.1
p.P155Q
c.464C>A
1 paper
NM_001371928.1
p.R192Q
c.575G>A
3 papers
NM_001371928.1
p.R151*
c.451C>T
1 paper
NM_001371928.1
p.E203G
c.608A>G
1 paper
NM_001371928.1
p.Q136*
c.406C>T
1 paper
NM_001371928.1
p.S207insFs
c.621dupT
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."