Varaico: Literature-Extracted Genetic Variants

Gene:CLUAP1
Variant:p.S236R

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.S236R
c.708T>A
Surrounding Variants
2 papers
NM_015041.3
p.Q235*
c.703C>T
2 papers
NM_015041.3
p.R230*
c.688C>T
1 paper
NM_015041.3
p.I217L
c.649A>C
1 paper
NM_015041.3
p.N212insFs
c.635_636insGC
1 paper
NM_015041.3
p.N205_A207delFs
c.613_619del7
1 paper
NM_015041.3
p.K200E
c.598A>G
1 paper
NM_015041.3
p.Q197P
c.590A>C
1 paper
NM_015041.3
p.V196I
c.586G>A
1 paper
NM_015041.3
p.V196F
c.586G>T
1 paper
NM_015041.3
p.E244_Y245delFs
c.732_733delGT
1 paper
NM_015041.3
p.Y245_T248del0
c.735_743del9
1 paper
NM_015041.3
p.E249G
c.746A>G
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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."