Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S326fs

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.S326fs
c.976_977fs
Surrounding Variants
8 papers
NM_001371928.1
p.Q327*
c.979C>T
1 paper
NM_001371928.1
p.S326_D330delFs
c.976_988del13
1 paper
NM_001371928.1
p.P331L
c.992C>T
4 papers
NM_001371928.1
p.Q332*
c.994C>T
1 paper
NM_001371928.1
p.A316fs
c.946_947fs
2 papers
NM_001371928.1
p.D335G
c.1004A>G
1 paper
NM_001371928.1
p.A313_Q315delFs
c.938_945del8
1 paper
NM_001371928.1
p.Q315insFs
c.944dupA
1 paper
NM_001371928.1
p.Q315R
c.944A>G
2 papers
NM_001371928.1
p.Q315*
c.943C>T
1 paper
NM_001371928.1
p.L314F
c.940C>T
1 paper
NM_001371928.1
p.A313D
c.938C>A
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