Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1L
Variant:p.S427Splc

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.S427Splc
c.1281-2A>G
Surrounding Variants
1 paper
NM_030782.5
p.V437I
c.1309G>A
1 paper
NM_030782.5
p.S427G
c.1279A>G
1 paper
NM_030782.5
p.S427R
c.1279A>C
1 paper
NM_030782.5
p.Y425C
c.1274A>G
1 paper
NM_030782.5
p.I423V
c.1267A>G
1 paper
NM_030782.5
p.V413V
c.1239C>T
1 paper
NM_030782.5
p.G439Splc
c.1316-153G>A
1 paper
NM_030782.5
p.A400G
c.1199C>G
1 paper
NM_030782.5
p.G439R
c.1315G>C
1 paper
NM_030782.5
p.G439R
c.1315G>A
2 papers
NM_030782.5
p.F443L
c.1327T>C
1 paper
NM_030782.5
p.G444V
c.1331G>T
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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."