Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.I108N

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.I108N
c.323T>A
Surrounding Variants
1 paper
NM_030782.5
p.A106A
c.318C>T
1 paper
NM_030782.5
p.M134V
c.400A>G
1 paper
NM_030782.5
p.I71N
c.212T>A
1 paper
NM_030782.5
p.A67T
c.199G>A
1 paper
NM_030782.5
p.Y58C
c.173A>G
1 paper
NM_030782.5
p.L55L
c.165G>T
1 paper
NM_030782.5
p.Q152Q
c.456G>A
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
1 paper
NM_030782.5
p.Q44*
c.130C>T
2 papers
NM_030782.5
p.D193N
c.577G>A
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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."