Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.T252N

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.T252N
c.755C>A
Surrounding Variants
1 paper
NM_001371928.1
p.T252fs
c.754_755fs
1 paper
NM_001371928.1
p.S250_L251delFs
c.750_753del4
2 papers
NM_001371928.1
p.I244delFs
c.730delT
2 papers
NM_001371928.1
p.I244fs
c.730_731fs
3 papers
NM_001371928.1
p.A261V
c.782C>T
8 papers
NM_001371928.1
p.Q262*
c.784C>T
1 paper
NM_001371928.1
p.A263P
c.787G>C
3 papers
NM_001371928.1
p.A263fs
c.787_788fs
4 papers
NM_001371928.1
p.A263delFs
c.787delC
1 paper
NM_001371928.1
p.S268delFs
c.802_803delGA
1 paper
NM_001371928.1
p.S268del1
c.802_803delCGA
1 paper
NM_001371928.1
p.P269fs
c.805_806fs
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