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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPCN2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 96 variants

29 papers

chr11:69078931 A>C

NM_139075.4

p.M484L

c.1450A>C

Ion_trans

Exome: 0.0% (AC=1, hom=0)Genome: n/a34 overlapping SVs

29 papers

chr11:69078931 A>T

NM_139075.4

p.M484L

c.1450A>T

Ion_trans

Exome: 16.4% (AC=239456, hom=21696)Genome: 13.4% (AC=20385, hom=1921)34 overlapping SVs

25 papers

chr11:69087895 G>A

NM_139075.4

p.G734E

c.2201G>A

Exome: 35.8% (AC=522122, hom=99813)Genome: 27.6% (AC=42026, hom=7160)34 overlapping SVs

13 papers

chr11:69067570 T>C

NM_139075.4

p.L265P

c.794T>C

Ion_trans

exact variant not in gnomAD35 overlapping SVs

12 papers

chr11:69083946 T>C

NM_139075.4

p.L564P

c.1691T>C

Ion_trans

Exome: 95.4% (AC=1394595, hom=675091)Genome: 87.4% (AC=133056, hom=59694)34 overlapping SVs

11 papers

chr11:69062965 C>T

NM_139075.4

p.R210C

c.628C>T

Ion_trans

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

9 papers

chr11:69072692 A>G

NM_139075.4

p.K376R

c.1127A>G

Exome: 31.5% (AC=461012, hom=75206)Genome: 27.7% (AC=42079, hom=6155)33 overlapping SVs

7 papers

chr11:69063896 G>A

NM_139075.4

p.V219I

c.655G>A

Ion_trans

Exome: 10.4% (AC=151844, hom=9531)Genome: 8.8% (AC=13393, hom=989)33 overlapping SVs

7 papers

chr11:69086561 C>T

NM_139075.4

p.S681L

c.2042C>T

Ion_trans

Exome: 0.5% (AC=7537, hom=94)Genome: 0.6% (AC=858, hom=17)33 overlapping SVs

4 papers

chr11:69072931 G>A

NM_139075.4

p.G387D

c.1160G>A

Exome: 11.6% (AC=168967, hom=10499)Genome: 10.6% (AC=16188, hom=884)33 overlapping SVs

3 papers

chr11:69054039 C>T

NM_139075.4

p.A39V

c.116C>T

Exome: 0.1% (AC=2031, hom=14)Genome: 0.1% (AC=100, hom=1)33 overlapping SVs

2 papers

chr11:69049007 C>T

NM_139075.4

p.P4S

c.10C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a36 overlapping SVs

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