Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.E730A

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.E730A
c.2189A>C
Surrounding Variants
3 papers
NM_001371928.1
p.E730insFs
c.2188dupG
2 papers
NM_001371928.1
p.E730delFs
c.2188delC
9 papers
NM_001371928.1
p.E730*
c.2188G>T
2 papers
NM_001371928.1
p.E730fs
c.2188_2189fs
1 paper
NM_001371928.1
p.V731fs
c.2191_2192fs
2 papers
NM_001371928.1
p.V731insFs
c.2192dupT
1 paper
NM_001371928.1
p.V731fs
c.2191_2192fs
3 papers
NM_001371928.1
p.D732fs
c.2194_2195fs
1 paper
NM_001371928.1
p.R728Q
c.2183G>A
2 papers
NM_001371928.1
p.V731_D732delFs
c.2191_2194del4
1 paper
NM_001371928.1
p.D732D
c.2196C>T
3 papers
NM_001371928.1
p.A733S
c.2197G>T
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