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

4 papers

NM_003307.4

p.E994A

c.2981A>C

Surrounding Variants

1 paper

NM_003307.4

p.E994K

c.2980G>A

2 papers

NM_003307.4

p.E994Q

c.2980G>C

2 papers

NM_003307.4

p.H995D

c.2983C>G

4 papers

NM_003307.4

p.H995Q

c.2985C>A

4 papers

NM_003307.4

p.H995Q

c.2985C>G

3 papers

NM_003307.4

p.C996S

c.2986T>A

3 papers

NM_003307.4

p.C996S

c.2987G>C

1 paper

NM_003307.4

p.D1002N

c.3004G>A

4 papers

NM_003307.4

p.D1002A

c.3005A>C

1 paper

NM_003307.4

p.C1008S

c.3022T>A

1 paper

NM_003307.4

p.C1008R

c.3022T>C

1 paper

NM_003307.4

p.C1008S

c.3023G>C