Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.D604fs

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.D604fs
c.1810_1811fs
Surrounding Variants
2 papers
NM_001371928.1
p.D604delFs
c.1810delC
1 paper
NM_001371928.1
p.D604E
c.1812C>G
1 paper
NM_001371928.1
p.D604fs
c.1810_1811fs
1 paper
NM_001371928.1
p.D604E
c.1812C>A
6 papers
NM_001371928.1
p.D607N
c.1819G>A
1 paper
NM_001371928.1
p.A610S
c.1828G>T
2 papers
NM_001371928.1
p.Q598fs
c.1792_1793fs
1 paper
NM_001371928.1
p.Q598*
c.1792C>T
3 papers
NM_001371928.1
p.S596_P597delFs
c.1788_1789delGA
1 paper
NM_001371928.1
p.K593*
c.1777A>T
1 paper
NM_001371928.1
p.R588W
c.1762C>T
4 papers
NM_001371928.1
p.R587fs
c.1759_1760fs
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