Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.K996R

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.K996R
c.2987A>G
Surrounding Variants
1 paper
NM_001371928.1
p.Q990*
c.2968C>T
1 paper
NM_001371928.1
p.A976_T988del13
c.2926_2963del39
1 paper
NM_001371928.1
p.N1006_S1007insFs
c.3018_3019ins5
1 paper
NM_001371928.1
p.K985*
c.2953A>T
1 paper
NM_001371928.1
p.T984fs
c.2950_2951fs
2 papers
NM_001371928.1
p.S1007_L1008insFs
c.3019_3023dup5
1 paper
NM_001371928.1
p.P1009fs
c.3025_3026fs
1 paper
NM_001371928.1
p.P983insFs
c.2948dupC
1 paper
NM_001371928.1
p.P983delFs
c.2948delG
1 paper
NM_001371928.1
p.P983Q
c.2948C>A
1 paper
NM_001371928.1
p.P983fs
c.2947_2948fs
1 paper
NM_001371928.1
p.A982V
c.2945C>T
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