Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S455F

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.S455F
c.1364C>T
Surrounding Variants
1 paper
NM_001371928.1
p.S455Y
c.1364C>A
1 paper
NM_001371928.1
p.L451F
c.1353G>T
1 paper
NM_001371928.1
p.L451F
c.1353G>C
1 paper
NM_001371928.1
p.V448A
c.1343T>C
1 paper
NM_001371928.1
p.G444C
c.1330G>T
6 papers
NM_001371928.1
p.C468fs
c.1402_1403fs
9 papers
NM_001371928.1
p.C468insFs
c.1402dupT
2 papers
NM_001371928.1
p.C468fs
c.1402_1403fs
1 paper
NM_001371928.1
p.V471M
c.1411G>A
1 paper
NM_001371928.1
p.P438fs
c.1312_1313fs
2 papers
NM_001371928.1
p.R473C
c.1417C>T
2 papers
NM_001371928.1
p.P430fs
c.1288_1289fs
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