Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R364C

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.R364C
c.1090C>T
Surrounding Variants
1 paper
NM_001371928.1
p.R364delFs
c.1091_1092delGC
3 papers
NM_001371928.1
p.C368fs
c.1102_1103fs
1 paper
NM_001371928.1
p.L359fs
c.1075_1076fs
1 paper
NM_001371928.1
p.P358insFs
c.1073dupC
1 paper
NM_001371928.1
p.P358S
c.1072C>T
1 paper
NM_001371928.1
p.H371N
c.1111C>A
1 paper
NM_001371928.1
p.C357fs
c.1069_1070fs
1 paper
NM_001371928.1
p.G372A
c.1115G>C
3 papers
NM_001371928.1
p.C368_G372delFs
c.1102_1114del13
1 paper
NM_001371928.1
p.G355E
c.1064G>A
1 paper
NM_001371928.1
p.G372fs
c.1114_1115fs
2 papers
NM_001371928.1
p.P374fs
c.1120_1121fs
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