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

1–12 of 354 variants

8 papers

NM_003307.4

p.D543E

c.1629T>A

8 papers

NM_003307.4

p.D543E

c.1629T>G

7 papers

NM_003307.4

p.P1018L

c.3053C>T

5 papers

NM_003307.4

p.R755C

c.2263C>T

5 papers

NM_003307.4

p.A890V

c.2669C>T

5 papers

NM_003307.4

p.D964A

c.2891A>C

4 papers

NM_003307.4

p.E450G

c.1349A>G

4 papers

NM_003307.4

p.V934I

c.2800G>A

4 papers

NM_003307.4

p.Q981E

c.2941C>G

4 papers

NM_003307.4

p.E994A

c.2981A>C

4 papers

NM_003307.4

p.H995Q

c.2985C>A

4 papers

NM_003307.4

p.H995Q

c.2985C>G