Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.R84W

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.R84W
c.250C>T
Surrounding Variants
1 paper
NM_139075.4
p.V81I
c.241G>A
1 paper
NM_139075.4
p.R76Q
c.227G>A
1 paper
NM_139075.4
p.Y74H
c.220T>C
1 paper
NM_139075.4
p.D110Y
c.328G>T
1 paper
NM_139075.4
p.R114H
c.341G>A
1 paper
NM_139075.4
p.A115T
c.343G>A
1 paper
NM_139075.4
p.S141Y
c.422C>A
1 paper
NM_139075.4
p.K143_G144Splc
c.429+1G>A
1 paper
NM_139075.4
p.K143_G144Splc
c.429+2T>G
1 paper
NM_139075.4
p.K143_G144Splc
c.429+11C>T
1 paper
NM_139075.4
p.Q58_Y59Splc
c.174+5G>A
3 papers
NM_139075.4
p.A39V
c.116C>T
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