Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.C468fs

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.C468fs
c.1402_1403fs
Surrounding Variants
9 papers
NM_001371928.1
p.C468insFs
c.1402dupT
6 papers
NM_001371928.1
p.C468fs
c.1402_1403fs
1 paper
NM_001371928.1
p.V471M
c.1411G>A
2 papers
NM_001371928.1
p.R473C
c.1417C>T
1 paper
NM_001371928.1
p.S455F
c.1364C>T
1 paper
NM_001371928.1
p.S455Y
c.1364C>A
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.V483fs
c.1447_1448fs
1 paper
NM_001371928.1
p.L451F
c.1353G>T
1 paper
NM_001371928.1
p.L451F
c.1353G>C
4 papers
NM_001371928.1
p.R487W
c.1459C>T
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