Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.G809fs

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.G809fs
c.2425_2426fs
Surrounding Variants
1 paper
NM_001371928.1
p.S808_G809insFs
c.2424_2425dupTG
1 paper
NM_001371928.1
p.S808G
c.2422A>G
1 paper
NM_001371928.1
p.S808_S811del4
c.2422_2432del12
1 paper
NM_001371928.1
p.R813C
c.2437C>T
1 paper
NM_001371928.1
p.R813H
c.2438G>A
7 papers
NM_001371928.1
p.L806fs
c.2416_2417fs
6 papers
NM_001371928.1
p.G805delFs
c.2415delC
1 paper
NM_001371928.1
p.G814D
c.2441G>A
1 paper
NM_001371928.1
p.A802_S803del2
c.2404_2408del6
1 paper
NM_001371928.1
p.Y816*
c.2448C>G
1 paper
NM_001371928.1
p.Y816*
c.2448C>A
1 paper
NM_001371928.1
p.T819M
c.2456C>T
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