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

5 papers

NM_003307.4

p.R755C

c.2263C>T

Surrounding Variants

2 papers

NM_003307.4

p.R755H

c.2264G>A

1 paper

NM_003307.4

p.W754delFs

c.2260delT

1 paper

NM_003307.4

p.S748F

c.2243C>T

1 paper

NM_003307.4

p.G745D

c.2234G>A

1 paper

NM_003307.4

p.L765R

c.2294T>G

1 paper

NM_003307.4

p.T740I

c.2219C>T

1 paper

NM_003307.4

p.R707C

c.2119C>T

1 paper

NM_003307.4

p.A701S

c.2101G>T

1 paper

NM_003307.4

p.R777G

c.2329A>G

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.R787C

c.2359C>T