Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R832H

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.R832H
c.2495G>A
Surrounding Variants
1 paper
NM_001371928.1
p.S829fs
c.2485_2486fs
1 paper
NM_001371928.1
p.S829delFs
c.2486delC
1 paper
NM_001371928.1
p.T837T
c.2511C>T
7 papers
NM_001371928.1
p.Q825*
c.2473C>T
1 paper
NM_001371928.1
p.Y839*
c.2517C>G
1 paper
NM_001371928.1
p.Y839*
c.2517C>A
9 papers
NM_001371928.1
p.F840delFs
c.2520delA
7 papers
NM_001371928.1
p.R841fs
c.2521_2522fs
1 paper
NM_001371928.1
p.R841H
c.2522G>A
2 papers
NM_001371928.1
p.S823*
c.2468C>G
2 papers
NM_001371928.1
p.S823*
c.2468C>A
6 papers
NM_001371928.1
p.D845fs
c.2533_2534fs
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