Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.T308A

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.T308A
c.922A>G
Surrounding Variants
1 paper
NM_139075.4
p.S322A
c.964T>G
1 paper
NM_139075.4
p.Q364*
c.1090C>T
1 paper
NM_139075.4
p.L371V
c.1111C>G
9 papers
NM_139075.4
p.K376R
c.1127A>G
1 paper
NM_139075.4
p.E381Q
c.1141G>C
4 papers
NM_139075.4
p.G387D
c.1160G>A
1 paper
NM_139075.4
p.S392*
c.1175C>A
1 paper
NM_139075.4
p.S392*
c.1175C>G
1 paper
NM_139075.4
p.E410Q
c.1228G>C
1 paper
NM_139075.4
p.A272A
c.816C>T
2 papers
NM_139075.4
p.A272T
c.814G>A
1 paper
NM_139075.4
p.T271M
c.812C>T
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