Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.A649fs

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
9 papers
NM_001371928.1
p.A649fs
c.1945_1946fs
Surrounding Variants
1 paper
NM_001371928.1
p.A649D
c.1946C>A
8 papers
NM_001371928.1
p.A649delFs
c.1945delC
1 paper
NM_001371928.1
p.A649fs
c.1945_1946fs
3 papers
NM_001371928.1
p.V646delFs
c.1937_1938delCA
1 paper
NM_001371928.1
p.F658C
c.1973T>G
3 papers
NM_001371928.1
p.L659fs
c.1975_1976fs
3 papers
NM_001371928.1
p.L659delFs
c.1975delG
1 paper
NM_001371928.1
p.W638*
c.1914G>A
1 paper
NM_001371928.1
p.W638*
c.1913G>A
1 paper
NM_001371928.1
p.R661C
c.1981C>T
2 papers
NM_001371928.1
p.R661H
c.1982G>A
1 paper
NM_001371928.1
p.R636C
c.1906C>T
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