Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.K586fs

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.K586fs
c.1756_1757fs
Surrounding Variants
1 paper
NM_001371928.1
p.K586*
c.1756A>T
1 paper
NM_001371928.1
p.K585fs
c.1753_1754fs
9 papers
NM_001371928.1
p.R587*
c.1759C>T
8 papers
NM_001371928.1
p.K586insFs
c.1758dupA
2 papers
NM_001371928.1
p.K586delFs
c.1758delT
1 paper
NM_001371928.1
p.K586delFs
c.1757_1758delTT
3 papers
NM_001371928.1
p.K585_K586delFs
c.1755_1758del4
3 papers
NM_001371928.1
p.R587fs
c.1759_1760fs
1 paper
NM_001371928.1
p.K585fs
c.1753_1754fs
1 paper
NM_001371928.1
p.K586Fs
c.1758delinsACFs
1 paper
NM_001371928.1
p.R587Q
c.1760G>A
4 papers
NM_001371928.1
p.R587fs
c.1759_1760fs
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