Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R956H

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.R956H
c.2867G>A
Surrounding Variants
1 paper
NM_001371928.1
p.R956C
c.2866C>T
1 paper
NM_001371928.1
p.A953V
c.2858C>T
1 paper
NM_001371928.1
p.S952L
c.2855C>T
1 paper
NM_001371928.1
p.H961fs
c.2881_2882fs
1 paper
NM_001371928.1
p.H961delFs
c.2881delG
1 paper
NM_001371928.1
p.H961fs
c.2881_2882fs
5 papers
NM_001371928.1
p.P950delFs
c.2849delG
2 papers
NM_001371928.1
p.P962L
c.2885C>T
1 paper
NM_001371928.1
p.P950L
c.2849C>T
4 papers
NM_001371928.1
p.P962insFs
c.2885dupC
5 papers
NM_001371928.1
p.P950fs
c.2848_2849fs
1 paper
NM_001371928.1
p.P963fs
c.2887_2888fs
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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."