Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.P489L

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.P489L
c.1466C>T
Surrounding Variants
1 paper
NM_030782.5
p.D499N
c.1495G>A
1 paper
NM_030782.5
p.T476I
c.1427C>T
1 paper
NM_030782.5
p.V502V
c.1506G>A
1 paper
NM_030782.5
p.R510W
c.1528C>T
1 paper
NM_030782.5
p.W511Splc
c.1532+9G>A
1 paper
NM_030782.5
p.W511Splc
c.1532+484C>T
1 paper
NM_030782.5
p.G444V
c.1331G>T
2 papers
NM_030782.5
p.F443L
c.1327T>C
1 paper
NM_030782.5
p.G439R
c.1315G>C
1 paper
NM_030782.5
p.G439R
c.1315G>A
1 paper
NM_030782.5
p.G439Splc
c.1316-153G>A
1 paper
NM_030782.5
p.V437I
c.1309G>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."