Varaico: Literature-Extracted Genetic Variants

TRPM2

206 papers

RefSeq Summary

The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activat...

Pfam Domains

LSDAT_eukaa 140–408UCSCSLOG in TRPM

TRPM2aa 471–732UCSCTRPM2-like domain

Ion_transaa 799–1060UCSCIon transport protein

NUDT9_Naa 1257–1343UCSCNUDT9-like, N-terminal domain

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 2

HGNC Alias Symbols

KNP3; LTRPC2; NUDT9L1; NUDT9H; EREG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_003307.4

p.D543E

c.1629T>A

Surrounding Variants

8 papers

NM_003307.4

p.D543E

c.1629T>G

2 papers

NM_003307.4

p.D543N

c.1627G>A

1 paper

NM_003307.4

p.P547L

c.1640C>T

2 papers

NM_003307.4

p.G507R

c.1519G>A

2 papers

NM_003307.4

p.G507R

c.1519G>C

1 paper

NM_003307.4

p.L588F

c.1762C>T

1 paper

NM_003307.4

p.L590M

c.1768C>A

1 paper

NM_003307.4

p.V460V

c.1380G>A

1 paper

NM_003307.4

p.A459T

c.1375G>A

4 papers

NM_003307.4

p.E450G

c.1349A>G

1 paper

NM_003307.4

p.S443G

c.1327A>G

1 paper

NM_003307.4

p.Q600*

c.1798C>T