Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.W638*

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.W638*
c.1913G>A
Surrounding Variants
1 paper
NM_001371928.1
p.W638*
c.1914G>A
1 paper
NM_001371928.1
p.R636C
c.1906C>T
3 papers
NM_001371928.1
p.V646delFs
c.1937_1938delCA
1 paper
NM_001371928.1
p.A629T
c.1885G>A
7 papers
NM_001371928.1
p.Q627delFs
c.1881delC
1 paper
NM_001371928.1
p.Q627fs
c.1879_1880fs
9 papers
NM_001371928.1
p.A649fs
c.1945_1946fs
1 paper
NM_001371928.1
p.A649D
c.1946C>A
8 papers
NM_001371928.1
p.A649delFs
c.1945delC
7 papers
NM_001371928.1
p.Q627fs
c.1879_1880fs
1 paper
NM_001371928.1
p.A649fs
c.1945_1946fs
1 paper
NM_001371928.1
p.R624H
c.1871G>A
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