Varaico: Literature-Extracted Genetic Variants

Gene:CLUAP1
Variant:p.G17delFs

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.G17delFs
c.51delA
Surrounding Variants
1 paper
NM_015041.3
p.G17delFs
c.50delG
1 paper
NM_015041.3
p.R20*
c.58C>T
1 paper
NM_015041.3
p.R28C
c.82C>T
1 paper
NM_015041.3
p.G33*
c.97G>T
1 paper
NM_015041.3
p.W41*
c.122G>A
1 paper
NM_015041.3
p.W41*
c.123G>A
1 paper
NM_015041.3
p.R45Splc
c.135-2A>G
1 paper
NM_015041.3
p.P54R
c.161C>G
1 paper
NM_015041.3
p.E59Q
c.175G>C
1 paper
NM_015041.3
p.R62Q
c.185G>A
1 paper
NM_015041.3
p.A68V
c.203C>T
1 paper
NM_015041.3
p.T75A
c.223A>G
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