Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.M546V

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.M546V
c.1636A>G
Surrounding Variants
1 paper
NM_139075.4
p.M546I
c.1638G>A
1 paper
NM_139075.4
p.M546I
c.1638G>C
1 paper
NM_139075.4
p.M546I
c.1638G>T
1 paper
NM_139075.4
p.R554H
c.1661G>A
12 papers
NM_139075.4
p.L564P
c.1691T>C
29 papers
NM_139075.4
p.M484L
c.1450A>C
29 papers
NM_139075.4
p.M484L
c.1450A>T
1 paper
NM_139075.4
p.E483E
c.1449G>A
1 paper
NM_139075.4
p.G583S
c.1747G>A
1 paper
NM_139075.4
p.G583G
c.1749C>T
1 paper
NM_139075.4
p.D465N
c.1393G>A
1 paper
NM_139075.4
p.R464C
c.1390C>T
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