Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R133C

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.R133C
c.397C>T
Surrounding Variants
1 paper
NM_001371928.1
p.Q136*
c.406C>T
1 paper
NM_001371928.1
p.L124L
c.372G>A
3 papers
NM_001371928.1
p.R151*
c.451C>T
1 paper
NM_001371928.1
p.R115W
c.343C>T
1 paper
NM_001371928.1
p.N113Y
c.337A>T
1 paper
NM_001371928.1
p.P155Q
c.464C>A
1 paper
NM_001371928.1
p.R109C
c.325C>T
1 paper
NM_001371928.1
p.R108*
c.322C>T
1 paper
NM_001371928.1
p.S107Y
c.320C>A
1 paper
NM_001371928.1
p.P160L
c.479C>T
1 paper
NM_001371928.1
p.G161S
c.481G>A
1 paper
NM_001371928.1
p.G104A
c.311G>C
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