Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.G924delFs

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
2 papers
NM_001371928.1
p.G924delFs
c.2772delT
Surrounding Variants
13 papers
NM_001371928.1
p.R925*
c.2773C>T
2 papers
NM_001371928.1
p.R925fs
c.2773_2774fs
1 paper
NM_001371928.1
p.G924E
c.2771G>A
1 paper
NM_001371928.1
p.T920_G924delFs
c.2758_2770del13
1 paper
NM_001371928.1
p.T920fs
c.2758_2759fs
1 paper
NM_001371928.1
p.R918C
c.2752C>T
1 paper
NM_001371928.1
p.S916fs
c.2746_2747fs
2 papers
NM_001371928.1
p.S916delFs
c.2746delA
1 paper
NM_001371928.1
p.S916fs
c.2746_2747fs
13 papers
NM_001371928.1
p.A935T
c.2803G>A
1 paper
NM_001371928.1
p.P913delFs
c.2738delG
1 paper
NM_001371928.1
p.D937H
c.2809G>C
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