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.A890V

c.2669C>T

Surrounding Variants

1 paper

NM_003307.4

p.I898N

c.2693T>A

1 paper

NM_003307.4

p.R909W

c.2725C>T

1 paper

NM_003307.4

p.R909Q

c.2726G>A

1 paper

NM_003307.4

p.M911T

c.2732T>C

1 paper

NM_003307.4

p.R886M

c.2657G>T

1 paper

NM_003307.4

p.M931I

c.2793G>A

1 paper

NM_003307.4

p.M931I

c.2793G>C

1 paper

NM_003307.4

p.M931I

c.2793G>T

1 paper

NM_003307.4

p.D933N

c.2797G>A

1 paper

NM_003307.4

p.D933H

c.2797G>C

1 paper

NM_003307.4

p.D933A

c.2798A>C

1 paper

NM_003307.4

p.D933E

c.2799C>A