Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S890R

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.S890R
c.2668A>C
Surrounding Variants
1 paper
NM_001371928.1
p.S890N
c.2669G>A
1 paper
NM_001371928.1
p.S890R
c.2670C>G
1 paper
NM_001371928.1
p.S890R
c.2670C>A
2 papers
NM_001371928.1
p.R891Q
c.2672G>A
1 paper
NM_001371928.1
p.F888L
c.2664C>G
1 paper
NM_001371928.1
p.F888L
c.2664C>A
1 paper
NM_001371928.1
p.F888L
c.2662T>C
1 paper
NM_001371928.1
p.G884delFs
c.2651delC
1 paper
NM_001371928.1
p.G884fs
c.2650_2651fs
1 paper
NM_001371928.1
p.P897S
c.2689C>T
2 papers
NM_001371928.1
p.A881_Q882insFs
c.2641_2644dup4
6 papers
NM_001371928.1
p.V898fs
c.2692_2693fs
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