Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.T34P

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
5 papers
NM_001371928.1
p.T34P
c.100A>C
Surrounding Variants
1 paper
NM_001371928.1
p.T34fs
c.100_101fs
1 paper
NM_001371928.1
p.P33insFs
c.99dupC
1 paper
NM_001371928.1
p.T34fs
c.100_101fs
1 paper
NM_001371928.1
p.P35H
c.104C>A
2 papers
NM_001371928.1
p.R36P
c.107G>C
1 paper
NM_001371928.1
p.L38P
c.113T>C
1 paper
NM_001371928.1
p.Y28C
c.83A>G
1 paper
NM_001371928.1
p.R42W
c.124C>T
1 paper
NM_001371928.1
p.R42Q
c.125G>A
3 papers
NM_001371928.1
p.P47S
c.139C>T
1 paper
NM_001371928.1
p.P47fs
c.139_140fs
1 paper
NM_001371928.1
p.A14T
c.40G>A
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