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

1 paper

NM_003307.4

p.R787L

c.2360G>T

Surrounding Variants

1 paper

NM_003307.4

p.R787C

c.2359C>T

1 paper

NM_003307.4

p.A788V

c.2363C>T

3 papers

NM_003307.4

p.D780E

c.2340T>A

3 papers

NM_003307.4

p.D780E

c.2340T>G

1 paper

NM_003307.4

p.V796L

c.2386G>C

1 paper

NM_003307.4

p.V796L

c.2386G>T

1 paper

NM_003307.4

p.R777G

c.2329A>G

1 paper

NM_003307.4

p.N802S

c.2405A>G

1 paper

NM_003307.4

p.L804I

c.2410C>A

1 paper

NM_003307.4

p.A808T

c.2422G>A

1 paper

NM_003307.4

p.F813L

c.2437T>C

1 paper

NM_003307.4

p.F813L

c.2439C>A