Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.L265P

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
13 papers
NM_139075.4
p.L265P
c.794T>C
Surrounding Variants
1 paper
NM_139075.4
p.T271M
c.812C>T
2 papers
NM_139075.4
p.A272T
c.814G>A
1 paper
NM_139075.4
p.A272A
c.816C>T
1 paper
NM_139075.4
p.Y254H
c.760T>C
1 paper
NM_139075.4
p.K242_Q243Splc
c.727-3T>C
1 paper
NM_139075.4
p.G234fs
c.700_701fs
1 paper
NM_139075.4
p.G234delFs
c.700delG
1 paper
NM_139075.4
p.H226L
c.677A>T
7 papers
NM_139075.4
p.V219I
c.655G>A
1 paper
NM_139075.4
p.V219L
c.655G>C
1 paper
NM_139075.4
p.V219F
c.655G>T
1 paper
NM_139075.4
p.T308A
c.922A>G
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