Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R668C

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.R668C
c.2002C>T
Surrounding Variants
1 paper
NM_001371928.1
p.R666W
c.1996C>T
1 paper
NM_001371928.1
p.R666G
c.1996C>G
2 papers
NM_001371928.1
p.R661H
c.1982G>A
1 paper
NM_001371928.1
p.F675fs
c.2023_2024fs
1 paper
NM_001371928.1
p.R661C
c.1981C>T
1 paper
NM_001371928.1
p.G676fs
c.2026_2027fs
1 paper
NM_001371928.1
p.F675delFs
c.2024_2025delAA
1 paper
NM_001371928.1
p.G676G
c.2028T>G
3 papers
NM_001371928.1
p.L659delFs
c.1975delG
3 papers
NM_001371928.1
p.L659fs
c.1975_1976fs
6 papers
NM_001371928.1
p.G677fs
c.2029_2030fs
1 paper
NM_001371928.1
p.F658C
c.1973T>G
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