Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.P374insFs

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
14 papers
NM_001371928.1
p.P374insFs
c.1122dupC
Surrounding Variants
1 paper
NM_001371928.1
p.G375R
c.1123G>C
1 paper
NM_001371928.1
p.G375R
c.1123G>A
8 papers
NM_001371928.1
p.G375fs
c.1123_1124fs
5 papers
NM_001371928.1
p.P374delFs
c.1122delG
2 papers
NM_001371928.1
p.P374fs
c.1120_1121fs
2 papers
NM_001371928.1
p.G375fs
c.1123_1124fs
2 papers
NM_001371928.1
p.P376fs
c.1126_1127fs
1 paper
NM_001371928.1
p.G375delFs
c.1125delC
2 papers
NM_001371928.1
p.P376fs
c.1126_1127fs
1 paper
NM_001371928.1
p.G372fs
c.1114_1115fs
1 paper
NM_001371928.1
p.G372A
c.1115G>C
3 papers
NM_001371928.1
p.C368_G372delFs
c.1102_1114del13
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."