Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.F1092L

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.F1092L
c.3276C>G
Surrounding Variants
1 paper
NM_001371928.1
p.F1092L
c.3276C>A
4 papers
NM_001371928.1
p.S1091_F1092del1
c.3272_3274delAGG
1 paper
NM_001371928.1
p.Q1093*
c.3277C>T
1 paper
NM_001371928.1
p.S1091_F1092del2
c.3271_3275del6
1 paper
NM_001371928.1
p.S1091_F1092insFs
c.3273_3274ins20
1 paper
NM_001371928.1
p.F1092L
c.3274T>C
1 paper
NM_001371928.1
p.S1086A
c.3256T>G
1 paper
NM_001371928.1
p.A1103V
c.3308C>T
2 papers
NM_001371928.1
p.S1106fs
c.3316_3317fs
1 paper
NM_001371928.1
p.S1106fs
c.3316_3317fs
1 paper
NM_001371928.1
p.A1105_Q1107delFs
c.3315_3319del5
1 paper
NM_001371928.1
p.R1111W
c.3331C>T
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