Varaico: Literature-Extracted Genetic Variants

Gene:TPCN2
Variant:p.S681L

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
7 papers
NM_139075.4
p.S681L
c.2042C>T
Surrounding Variants
1 paper
NM_139075.4
p.S682A
c.2044T>G
1 paper
NM_139075.4
p.V686A
c.2057T>C
1 paper
NM_139075.4
p.V675V
c.2025A>G
2 papers
NM_139075.4
p.N687S
c.2060A>G
1 paper
NM_139075.4
p.A691P
c.2071G>C
1 paper
NM_139075.4
p.E695fs
c.2083_2084fs
1 paper
NM_139075.4
p.E695A
c.2084A>C
1 paper
NM_139075.4
p.H699Q
c.2097C>A
1 paper
NM_139075.4
p.H699Q
c.2097C>G
1 paper
NM_139075.4
p.D702N
c.2104G>A
1 paper
NM_139075.4
p.P668L
c.2003C>T
1 paper
NM_139075.4
p.V652M
c.1954G>A
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