Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R740P

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.R740P
c.2219G>C
Surrounding Variants
1 paper
NM_001371928.1
p.R743W
c.2227C>T
9 papers
NM_001371928.1
p.R743delFs
c.2229delC
8 papers
NM_001371928.1
p.S744fs
c.2230_2231fs
1 paper
NM_001371928.1
p.S744fs
c.2230_2231fs
1 paper
NM_001371928.1
p.R745W
c.2233C>T
3 papers
NM_001371928.1
p.A733S
c.2197G>T
1 paper
NM_001371928.1
p.D732D
c.2196C>T
2 papers
NM_001371928.1
p.V731_D732delFs
c.2191_2194del4
3 papers
NM_001371928.1
p.D732fs
c.2194_2195fs
2 papers
NM_001371928.1
p.V731insFs
c.2192dupT
1 paper
NM_001371928.1
p.V731fs
c.2191_2192fs
1 paper
NM_001371928.1
p.V731fs
c.2191_2192fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."