Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.Q152Q

CLPTM1L

85 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to s...

Pfam Domains

CLPTM1aa 9–422UCSCCleft lip and palate transmembrane protein 1 (CLPTM1)

Gene Aliases

HGNC Name

CLPTM1 like

HGNC Alias Symbols

FLJ14400; CRR9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030782.5
p.Q152Q
c.456G>A
Surrounding Variants
1 paper
NM_030782.5
p.A175A
c.525G>A
1 paper
NM_030782.5
p.D181D
c.543C>T
1 paper
NM_030782.5
p.V184F
c.550G>T
2 papers
NM_030782.5
p.D193N
c.577G>A
1 paper
NM_030782.5
p.M200Splc
c.599+245C>T
1 paper
NM_030782.5
p.M200Splc
c.600-529T>C
1 paper
NM_030782.5
p.M200I
c.600G>T
1 paper
NM_030782.5
p.M200I
c.600G>C
1 paper
NM_030782.5
p.M200I
c.600G>A
2 papers
NM_030782.5
p.V207M
c.619G>A
1 paper
NM_030782.5
p.Y209S
c.626A>C
1 paper
NM_030782.5
p.I212M
c.636C>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."