Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.E1210D

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.E1210D
c.3630G>C
Surrounding Variants
2 papers
NM_001371928.1
p.E1210D
c.3630G>T
3 papers
NM_001371928.1
p.W1208*
c.3624G>A
3 papers
NM_001371928.1
p.W1208*
c.3623G>A
1 paper
NM_001371928.1
p.D1207E
c.3621C>G
1 paper
NM_001371928.1
p.D1207E
c.3621C>A
1 paper
NM_001371928.1
p.E1202*
c.3604G>T
1 paper
NM_001371928.1
p.W1219*
c.3656G>A
1 paper
NM_001371928.1
p.W1219*
c.3657G>A
1 paper
NM_001371928.1
p.S1199S
c.3597C>G
1 paper
NM_001371928.1
p.S1196L
c.3587C>T
1 paper
NM_001371928.1
p.Q1226*
c.3676C>T
1 paper
NM_001371928.1
p.K1230R
c.3689A>G
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