Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.A353V

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.A353V
c.1058C>T
Surrounding Variants
1 paper
NM_030782.5
p.V355L
c.1063G>C
1 paper
NM_030782.5
p.V349M
c.1045G>A
1 paper
NM_030782.5
p.D342G
c.1025A>G
1 paper
NM_030782.5
p.L327P
c.980T>C
1 paper
NM_030782.5
p.T323A
c.967A>G
1 paper
NM_030782.5
p.K316_S317del1
c.947_949delTCT
1 paper
NM_030782.5
p.K315Q
c.943A>C
3 papers
NM_030782.5
p.K313N
c.939G>T
3 papers
NM_030782.5
p.K313N
c.939G>C
1 paper
NM_030782.5
p.E360_L361Splc
c.1081-706A>T
1 paper
NM_030782.5
p.A294V
c.881C>T
1 paper
NM_030782.5
p.A294T
c.880G>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."