Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.P1045delFs

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.P1045delFs
c.3135delG
Surrounding Variants
2 papers
NM_001371928.1
p.F1046fs
c.3136_3137fs
1 paper
NM_001371928.1
p.S1047F
c.3140C>T
1 paper
NM_001371928.1
p.S1049delFs
c.3145_3146delGA
1 paper
NM_001371928.1
p.A1050G
c.3149C>G
1 paper
NM_001371928.1
p.A1050fs
c.3148_3149fs
1 paper
NM_001371928.1
p.S1036_F1037del1
c.3107_3109delAGG
1 paper
NM_001371928.1
p.S1036F
c.3107C>T
1 paper
NM_001371928.1
p.C1056fs
c.3166_3167fs
1 paper
NM_001371928.1
p.C1056_D1057delFs
c.3168_3169delCA
1 paper
NM_001371928.1
p.A1060V
c.3179C>T
2 papers
NM_001371928.1
p.T1062fs
c.3184_3185fs
1 paper
NM_001371928.1
p.T1062delFs
c.3185_3186delTG
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