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.C1030F

c.3089G>T

Surrounding Variants

1 paper

NM_003307.4

p.T1025M

c.3074C>T

1 paper

NM_003307.4

p.F1035C

c.3104T>G

4 papers

NM_003307.4

p.E1022A

c.3065A>C

1 paper

NM_003307.4

p.E1022Q

c.3064G>C

1 paper

NM_003307.4

p.F1020V

c.3058T>G

1 paper

NM_003307.4

p.L1041R

c.3122T>G

7 papers

NM_003307.4

p.P1018L

c.3053C>T

4 papers

NM_003307.4

p.D1012A

c.3035A>C

1 paper

NM_003307.4

p.D1012N

c.3034G>A

1 paper

NM_003307.4

p.N1049D

c.3145A>G

4 papers

NM_003307.4

p.E1010A

c.3029A>C

1 paper

NM_003307.4

p.E1010Q

c.3028G>C