Varaico: Literature-Extracted Genetic Variants

Gene:TRPM2
Variant:p.V934I

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
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
4 papers
NM_003307.4
p.V934I
c.2800G>A
Surrounding Variants
1 paper
NM_003307.4
p.D933E
c.2799C>A
1 paper
NM_003307.4
p.D933E
c.2799C>G
1 paper
NM_003307.4
p.D933A
c.2798A>C
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.M931I
c.2793G>A
1 paper
NM_003307.4
p.M931I
c.2793G>C
1 paper
NM_003307.4
p.M931I
c.2793G>T
2 papers
NM_003307.4
p.F937L
c.2809T>C
2 papers
NM_003307.4
p.F937L
c.2811C>A
2 papers
NM_003307.4
p.F937L
c.2811C>G
1 paper
NM_003307.4
p.L938R
c.2813T>G
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