Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q1151*

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.Q1151*
c.3451C>T
Surrounding Variants
2 papers
NM_001371928.1
p.V1153_K1154ins8
c.3457_3461ins24
5 papers
NM_001371928.1
p.Q1156*
c.3466C>T
1 paper
NM_001371928.1
p.C1134_V1136del3
c.3400_3407del9
1 paper
NM_001371928.1
p.C1134_V1136delFs
c.3401_3407del7
1 paper
NM_001371928.1
p.V1136I
c.3406G>A
1 paper
NM_001371928.1
p.S1166*
c.3497C>G
1 paper
NM_001371928.1
p.S1166*
c.3497C>A
1 paper
NM_001371928.1
p.S1131N
c.3392G>A
1 paper
NM_001371928.1
p.Q1126*
c.3376C>T
1 paper
NM_001371928.1
p.P1176L
c.3527C>T
1 paper
NM_001371928.1
p.F1124delFs
c.3371_3372delAA
1 paper
NM_001371928.1
p.A1123T
c.3367G>A
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