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

2 papers

NM_003307.4

p.D624Y

c.1870G>T

Surrounding Variants

1 paper

NM_003307.4

p.D620G

c.1859A>G

1 paper

NM_003307.4

p.N633delFs

c.1897delA

1 paper

NM_003307.4

p.N633fs

c.1897_1898fs

1 paper

NM_003307.4

p.R634H

c.1901G>A

1 paper

NM_003307.4

p.I641V

c.1921A>G

1 paper

NM_003307.4

p.S606Y

c.1817C>A

1 paper

NM_003307.4

p.Q600*

c.1798C>T

1 paper

NM_003307.4

p.A651V

c.1952C>T

1 paper

NM_003307.4

p.L662Q

c.1985T>A

1 paper

NM_003307.4

p.D670N

c.2008G>A

1 paper

NM_003307.4

p.L676Q

c.2027T>A

1 paper

NM_003307.4

p.A679V

c.2036C>T