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.Y833*

c.2499C>G

Surrounding Variants

1 paper

NM_003307.4

p.Y833*

c.2499C>A

1 paper

NM_003307.4

p.L834F

c.2500C>T

1 paper

NM_003307.4

p.I832M

c.2496C>G

1 paper

NM_003307.4

p.E829A

c.2486A>C

1 paper

NM_003307.4

p.E829K

c.2485G>A

1 paper

NM_003307.4

p.E842K

c.2524G>A

1 paper

NM_003307.4

p.E843Q

c.2527G>C

1 paper

NM_003307.4

p.E843A

c.2528A>C

1 paper

NM_003307.4

p.E843D

c.2529G>C

1 paper

NM_003307.4

p.E843D

c.2529G>T

1 paper

NM_003307.4

p.Q846K

c.2536C>A

1 paper

NM_003307.4

p.Q846E

c.2536C>G