Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q794*

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.Q794*
c.2380C>T
Surrounding Variants
2 papers
NM_001371928.1
p.G792delFs
c.2375_2376delCC
1 paper
NM_001371928.1
p.G792fs
c.2374_2375fs
15 papers
NM_001371928.1
p.C791_G792delFs
c.2373_2374delCA
5 papers
NM_001371928.1
p.G792R
c.2374G>C
5 papers
NM_001371928.1
p.G792R
c.2374G>A
3 papers
NM_001371928.1
p.C791fs
c.2371_2372fs
11 papers
NM_001371928.1
p.C791fs
c.2371_2372fs
1 paper
NM_001371928.1
p.E797*
c.2389G>T
2 papers
NM_001371928.1
p.R789*
c.2365C>T
1 paper
NM_001371928.1
p.Q786*
c.2356C>T
1 paper
NM_001371928.1
p.A802_S803del2
c.2404_2408del6
7 papers
NM_001371928.1
p.L806fs
c.2416_2417fs
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