Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.A710T

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
2 papers
NM_001371928.1
p.A710T
c.2128G>A
Surrounding Variants
1 paper
NM_001371928.1
p.G711R
c.2131G>C
1 paper
NM_001371928.1
p.G711R
c.2131G>A
1 paper
NM_001371928.1
p.V712fs
c.2134_2135fs
1 paper
NM_001371928.1
p.V712delFs
c.2136delG
1 paper
NM_001371928.1
p.A706V
c.2117C>T
1 paper
NM_001371928.1
p.P715P
c.2145G>T
1 paper
NM_001371928.1
p.F695_I698del4
c.2083_2093del12
1 paper
NM_001371928.1
p.F695Y
c.2084T>A
1 paper
NM_001371928.1
p.F694L
c.2082C>G
1 paper
NM_001371928.1
p.F694L
c.2082C>A
2 papers
NM_001371928.1
p.K725fs
c.2173_2174fs
1 paper
NM_001371928.1
p.F694L
c.2080T>C
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