Varaico: Literature-Extracted Genetic Variants

Gene:CLUAP1

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
1–12 of 78 variants
7 papers
NM_015041.3
p.L273F
c.817C>T
3 papers
NM_015041.3
p.D257N
c.769G>A
2 papers
NM_015041.3
p.A107V
c.320C>T
2 papers
NM_015041.3
p.M113R
c.338T>G
2 papers
NM_015041.3
p.R230*
c.688C>T
2 papers
NM_015041.3
p.Q235*
c.703C>T
1 paper
NM_015041.3
p.M1delFs
c.1delA
1 paper
NM_015041.3
p.M1fs
c.1_2fs
1 paper
NM_015041.3
p.M1T
c.2T>C
1 paper
NM_015041.3
p.M1_S2insFs
c.3_4insT
1 paper
NM_015041.3
p.G17delFs
c.50delG
1 paper
NM_015041.3
p.G17delFs
c.51delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."