Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.V483fs

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
4 papers
NM_001371928.1
p.V483fs
c.1447_1448fs
Surrounding Variants
1 paper
NM_001371928.1
p.V483I
c.1447G>A
4 papers
NM_001371928.1
p.P482delFs
c.1446delG
4 papers
NM_001371928.1
p.R487W
c.1459C>T
1 paper
NM_001371928.1
p.T492K
c.1475C>A
2 papers
NM_001371928.1
p.R473C
c.1417C>T
8 papers
NM_001371928.1
p.K494*
c.1480A>T
2 papers
NM_001371928.1
p.K494fs
c.1480_1481fs
1 paper
NM_001371928.1
p.V471M
c.1411G>A
5 papers
NM_001371928.1
p.K494delFs
c.1481_1482delTT
2 papers
NM_001371928.1
p.C468fs
c.1402_1403fs
9 papers
NM_001371928.1
p.C468insFs
c.1402dupT
6 papers
NM_001371928.1
p.C468fs
c.1402_1403fs
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