Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.G506C

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.G506C
c.1516G>T
Surrounding Variants
3 papers
NM_001371928.1
p.K507*
c.1519A>T
5 papers
NM_001371928.1
p.V504M
c.1510G>A
4 papers
NM_001371928.1
p.G510fs
c.1528_1529fs
4 papers
NM_001371928.1
p.G510delFs
c.1529delC
2 papers
NM_001371928.1
p.L498*
c.1493T>A
1 paper
NM_001371928.1
p.S514L
c.1541C>T
1 paper
NM_001371928.1
p.E516*
c.1546G>T
5 papers
NM_001371928.1
p.K494delFs
c.1481_1482delTT
8 papers
NM_001371928.1
p.K494*
c.1480A>T
2 papers
NM_001371928.1
p.K494fs
c.1480_1481fs
1 paper
NM_001371928.1
p.T492K
c.1475C>A
1 paper
NM_001371928.1
p.M523I
c.1569G>T
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