Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1

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
1–12 of 586 variants
15 papers
NM_001371928.1
p.C791_G792delFs
c.2373_2374delCA
14 papers
NM_001371928.1
p.P374insFs
c.1122dupC
13 papers
NM_001371928.1
p.R688*
c.2062C>T
13 papers
NM_001371928.1
p.R925*
c.2773C>T
13 papers
NM_001371928.1
p.A935T
c.2803G>A
11 papers
NM_001371928.1
p.C791fs
c.2371_2372fs
11 papers
NM_001371928.1
p.Q970*
c.2908C>T
10 papers
NM_001371928.1
p.Q882*
c.2644C>T
10 papers
NM_001371928.1
p.T966delFs
c.2898delG
10 papers
NM_001371928.1
p.Y967fs
c.2899_2900fs
10 papers
NM_001371928.1
p.Q1270fs
c.3808_3809fs
9 papers
NM_001371928.1
p.C468insFs
c.1402dupT
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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."