Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.R188Q

TPCN2

124 papers

RefSeq Summary

This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide p...

Pfam Domains

Ion_transaa 83–318UCSCIon transport protein
Ion_transaa 431–700UCSCIon transport protein

Gene Aliases

HGNC Name

two pore segment channel 2

HGNC Alias Symbol

TPC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139075.4
p.R188Q
c.563G>A
Surrounding Variants
1 paper
NM_139075.4
p.R185Q
c.554G>A
1 paper
NM_139075.4
p.F194L
c.580T>C
1 paper
NM_139075.4
p.F194L
c.582C>A
1 paper
NM_139075.4
p.F194L
c.582C>G
1 paper
NM_139075.4
p.M201I
c.603G>A
1 paper
NM_139075.4
p.M201I
c.603G>C
1 paper
NM_139075.4
p.M201I
c.603G>T
1 paper
NM_139075.4
p.K203Q
c.607A>C
11 papers
NM_139075.4
p.R210C
c.628C>T
1 paper
NM_139075.4
p.S218Splc
c.653+9T>C
7 papers
NM_139075.4
p.V219I
c.655G>A
1 paper
NM_139075.4
p.V219L
c.655G>C
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