Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q754*

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.Q754*
c.2260C>T
Surrounding Variants
1 paper
NM_001371928.1
p.L750_E753del4
c.2248_2258del12
2 papers
NM_001371928.1
p.P756H
c.2267C>A
3 papers
NM_001371928.1
p.L750delFs
c.2248_2249delAG
1 paper
NM_001371928.1
p.L750fs
c.2248_2249fs
1 paper
NM_001371928.1
p.R745W
c.2233C>T
1 paper
NM_001371928.1
p.S744fs
c.2230_2231fs
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.R743W
c.2227C>T
1 paper
NM_001371928.1
p.A766T
c.2296G>A
1 paper
NM_001371928.1
p.R740P
c.2219G>C
3 papers
NM_001371928.1
p.A769V
c.2306C>T
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