Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.E293*

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.E293*
c.877G>T
Surrounding Variants
1 paper
NM_001371928.1
p.E293fs
c.877_878fs
1 paper
NM_001371928.1
p.E293delFs
c.877delC
1 paper
NM_001371928.1
p.G292R
c.874G>A
1 paper
NM_001371928.1
p.R281_L283del0
c.843_848del6
1 paper
NM_001371928.1
p.P302L
c.905C>T
1 paper
NM_001371928.1
p.P306fs
c.916_917fs
1 paper
NM_001371928.1
p.P306delFs
c.917delG
1 paper
NM_001371928.1
p.P278S
c.832C>T
1 paper
NM_001371928.1
p.G311C
c.931G>T
1 paper
NM_001371928.1
p.G311fs
c.931_932fs
1 paper
NM_001371928.1
p.G311fs
c.931_932fs
1 paper
NM_001371928.1
p.G311delFs
c.932delC
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