Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.A313_Q315delFs

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.A313_Q315delFs
c.938_945del8
Surrounding Variants
1 paper
NM_001371928.1
p.Q315insFs
c.944dupA
1 paper
NM_001371928.1
p.A316fs
c.946_947fs
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
1 paper
NM_001371928.1
p.A313fs
c.937_938fs
1 paper
NM_001371928.1
p.G311fs
c.931_932fs
1 paper
NM_001371928.1
p.G311delFs
c.932delC
1 paper
NM_001371928.1
p.G311C
c.931G>T
1 paper
NM_001371928.1
p.G311fs
c.931_932fs
1 paper
NM_001371928.1
p.P306delFs
c.917delG
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