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.E960Q

c.2878G>C

Surrounding Variants

2 papers

NM_003307.4

p.E960A

c.2879A>C

2 papers

NM_003307.4

p.E960D

c.2880G>C

2 papers

NM_003307.4

p.E960D

c.2880G>T

2 papers

NM_003307.4

p.R961S

c.2881C>A

2 papers

NM_003307.4

p.H958Q

c.2874C>A

2 papers

NM_003307.4

p.H958Q

c.2874C>G

1 paper

NM_003307.4

p.R961H

c.2882G>A

1 paper

NM_003307.4

p.H958D

c.2872C>G

2 papers

NM_003307.4

p.D964N

c.2890G>A

5 papers

NM_003307.4

p.D964A

c.2891A>C

1 paper

NM_003307.4

p.L966M

c.2896C>A

3 papers

NM_003307.4

p.Q953*

c.2857C>T