Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R1183W

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.R1183W
c.3547C>T
Surrounding Variants
1 paper
NM_001371928.1
p.G1181_F1182del2
c.3541_3545del6
2 papers
NM_001371928.1
p.G1181insFs
c.3543dupG
2 papers
NM_001371928.1
p.F1182fs
c.3544_3545fs
1 paper
NM_001371928.1
p.G1181delFs
c.3543delC
1 paper
NM_001371928.1
p.R1184C
c.3550C>T
1 paper
NM_001371928.1
p.G1180R
c.3538G>C
1 paper
NM_001371928.1
p.G1180R
c.3538G>A
1 paper
NM_001371928.1
p.P1176L
c.3527C>T
1 paper
NM_001371928.1
p.S1196L
c.3587C>T
1 paper
NM_001371928.1
p.S1199S
c.3597C>G
1 paper
NM_001371928.1
p.S1166*
c.3497C>G
1 paper
NM_001371928.1
p.S1166*
c.3497C>A
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