Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.D232_S233delFs

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.D232_S233delFs
c.695_698del4
Surrounding Variants
1 paper
NM_001371928.1
p.D232fs
c.694_695fs
1 paper
NM_001371928.1
p.P226_P227insFs
c.677_680dup4
2 papers
NM_001371928.1
p.I244fs
c.730_731fs
2 papers
NM_001371928.1
p.I244delFs
c.730delT
1 paper
NM_001371928.1
p.G217R
c.649G>C
1 paper
NM_001371928.1
p.G217R
c.649G>A
1 paper
NM_001371928.1
p.T252fs
c.754_755fs
3 papers
NM_001371928.1
p.S215insFs
c.643dupA
1 paper
NM_001371928.1
p.S250_L251delFs
c.750_753del4
3 papers
NM_001371928.1
p.S215fs
c.643_644fs
1 paper
NM_001371928.1
p.T252N
c.755C>A
1 paper
NM_001371928.1
p.G211delFs
c.632delC
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