Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.P962L

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
2 papers
NM_001371928.1
p.P962L
c.2885C>T
Surrounding Variants
4 papers
NM_001371928.1
p.P962insFs
c.2885dupC
1 paper
NM_001371928.1
p.P963fs
c.2887_2888fs
1 paper
NM_001371928.1
p.H961fs
c.2881_2882fs
1 paper
NM_001371928.1
p.H961delFs
c.2881delG
3 papers
NM_001371928.1
p.P963fs
c.2887_2888fs
1 paper
NM_001371928.1
p.H961fs
c.2881_2882fs
1 paper
NM_001371928.1
p.A964fs
c.2890_2891fs
2 papers
NM_001371928.1
p.A964fs
c.2890_2891fs
3 papers
NM_001371928.1
p.P963_A964delFs
c.2889_2892del4
10 papers
NM_001371928.1
p.T966delFs
c.2898delG
10 papers
NM_001371928.1
p.Y967fs
c.2899_2900fs
1 paper
NM_001371928.1
p.Y967fs
c.2899_2900fs
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