Varaico: Literature-Extracted Genetic Variants

Gene:CLUAP1
Variant:p.D129E

CLUAP1

61 papers

RefSeq Summary

The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012].

Pfam Domains

Cluap1aa 14–283UCSCClusterin-associated protein-1

Gene Aliases

HGNC Name

clusterin associated protein 1

HGNC Alias Symbols

FLJ13297; KIAA0643; FAP22; IFT38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015041.3
p.D129E
c.387T>G
Surrounding Variants
1 paper
NM_015041.3
p.D129E
c.387T>A
1 paper
NM_015041.3
p.G131C
c.391G>T
1 paper
NM_015041.3
p.F126C
c.377T>G
1 paper
NM_015041.3
p.K133R
c.398A>G
1 paper
NM_015041.3
p.E121K
c.361G>A
1 paper
NM_015041.3
p.V119G
c.356T>G
1 paper
NM_015041.3
p.M113T
c.338T>C
2 papers
NM_015041.3
p.M113R
c.338T>G
2 papers
NM_015041.3
p.A107V
c.320C>T
1 paper
NM_015041.3
p.L104L
c.312T>C
1 paper
NM_015041.3
p.A93V
c.278C>T
1 paper
NM_015041.3
p.Y87D
c.259T>G
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