Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R412H

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.R412H
c.1235G>A
Surrounding Variants
1 paper
NM_001371928.1
p.R412delFs
c.1234delG
2 papers
NM_001371928.1
p.G411S
c.1231G>A
1 paper
NM_001371928.1
p.G411fs
c.1231_1232fs
1 paper
NM_001371928.1
p.L416fs
c.1246_1247fs
1 paper
NM_001371928.1
p.L416delFs
c.1246delG
1 paper
NM_001371928.1
p.P419L
c.1256C>T
2 papers
NM_001371928.1
p.T420M
c.1259C>T
1 paper
NM_001371928.1
p.R403fs
c.1207_1208fs
2 papers
NM_001371928.1
p.G402delFs
c.1206delT
1 paper
NM_001371928.1
p.G400R
c.1198G>C
1 paper
NM_001371928.1
p.G400R
c.1198G>A
1 paper
NM_001371928.1
p.K398N
c.1194A>T
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