Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.M226_V227Splc

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.M226_V227Splc
c.679-932A>G
Surrounding Variants
1 paper
NM_030782.5
p.V227V
c.681C>T
1 paper
NM_030782.5
p.R248W
c.742C>T
1 paper
NM_030782.5
p.H254R
c.761A>G
1 paper
NM_030782.5
p.K270R
c.809A>G
1 paper
NM_030782.5
p.N283D
c.847A>G
1 paper
NM_030782.5
p.A294T
c.880G>A
1 paper
NM_030782.5
p.A294V
c.881C>T
1 paper
NM_030782.5
p.I212M
c.636C>G
1 paper
NM_030782.5
p.Y209S
c.626A>C
2 papers
NM_030782.5
p.V207M
c.619G>A
1 paper
NM_030782.5
p.M200I
c.600G>T
1 paper
NM_030782.5
p.M200I
c.600G>C
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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."