Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R545H

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.R545H
c.1634G>A
Surrounding Variants
3 papers
NM_001371928.1
p.G548S
c.1642G>A
3 papers
NM_001371928.1
p.R549H
c.1646G>A
1 paper
NM_001371928.1
p.M539delFs
c.1617delC
1 paper
NM_001371928.1
p.M539fs
c.1615_1616fs
1 paper
NM_001371928.1
p.K552fs
c.1654_1655fs
2 papers
NM_001371928.1
p.P551delFs
c.1653delA
3 papers
NM_001371928.1
p.G537D
c.1610G>A
2 papers
NM_001371928.1
p.G559S
c.1675G>A
1 paper
NM_001371928.1
p.M523I
c.1569G>T
1 paper
NM_001371928.1
p.M523I
c.1569G>C
1 paper
NM_001371928.1
p.M523I
c.1569G>A
1 paper
NM_001371928.1
p.E570fs
c.1708_1709fs
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