Varaico: Literature-Extracted Genetic Variants

Gene:CLPTM1
Variant:p.A4A

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.A4A
c.12G>C
Surrounding Variants
1 paper
NM_001294.4
p.G9R
c.25G>A
1 paper
NM_001294.4
p.G9R
c.25G>C
1 paper
NM_001294.4
p.Q24*
c.70C>T
1 paper
NM_001294.4
p.G29D
c.86G>A
1 paper
NM_001294.4
p.P41S
c.121C>T
2 papers
NM_001294.4
p.A46A
c.138C>T
1 paper
NM_001294.4
p.R62Splc
c.185+3G>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."