Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.S1036F

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.S1036F
c.3107C>T
Surrounding Variants
1 paper
NM_001371928.1
p.S1036_F1037del1
c.3107_3109delAGG
2 papers
NM_001371928.1
p.P1045delFs
c.3135delG
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.T1025I
c.3074C>T
1 paper
NM_001371928.1
p.Y1020_T1025delFs
c.3060_3073del14
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.A1021V
c.3062C>T
1 paper
NM_001371928.1
p.A1021fs
c.3061_3062fs
1 paper
NM_001371928.1
p.C1056fs
c.3166_3167fs
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