Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1
Variant:p.G86R

CLPTM1

53 papers

Pfam Domains

CLPTM1aa 57–497UCSCCleft lip and palate transmembrane protein 1 (CLPTM1)

Gene Aliases

HGNC Name

CLPTM1 regulator of GABA type A receptor forward trafficking

HGNC Previous Names

cleft lip and palate associated transmembrane protein 1; CLPTM1, transmembrane protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001294.4
p.G86R
c.256G>C
Surrounding Variants
1 paper
NM_001294.4
p.G86R
c.256G>A
1 paper
NM_001294.4
p.Q80E
c.238C>G
1 paper
NM_001294.4
p.P98S
c.292C>T
1 paper
NM_001294.4
p.N119Y
c.355A>T
1 paper
NM_001294.4
p.D130N
c.388G>A
1 paper
NM_001294.4
p.K182K
c.546G>A
1 paper
NM_001294.4
p.A183V
c.548C>T
1 paper
NM_001294.4
p.S194_R195ins1
c.582_583insCAG
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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."