Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R395C

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
2 papers
NM_001371928.1
p.R395C
c.1183C>T
Surrounding Variants
1 paper
NM_001371928.1
p.C394delFs
c.1181_1182delAC
1 paper
NM_001371928.1
p.C394fs
c.1180_1181fs
1 paper
NM_001371928.1
p.K398N
c.1194A>T
1 paper
NM_001371928.1
p.P390fs
c.1168_1169fs
2 papers
NM_001371928.1
p.P390delFs
c.1169delG
1 paper
NM_001371928.1
p.G400R
c.1198G>C
1 paper
NM_001371928.1
p.G400R
c.1198G>A
2 papers
NM_001371928.1
p.R389delFs
c.1167delC
1 paper
NM_001371928.1
p.R389fs
c.1165_1166fs
1 paper
NM_001371928.1
p.D388H
c.1162G>C
1 paper
NM_001371928.1
p.R403fs
c.1207_1208fs
2 papers
NM_001371928.1
p.G402delFs
c.1206delT
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