Varaico: Literature-Extracted Genetic Variants

Gene:TRPM3

TRPM3

159 papers

RefSeq Summary

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The ...

Pfam Domains

LSDAT_eukaa 1–265UCSCSLOG in TRPM
TRPM2aa 320–609UCSCTRPM2-like domain
Ion_transaa 729–983UCSCIon transport protein
TRPM_tetraaa 1074–1129UCSCTetramerisation domain of TRPM

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 3

HGNC Alias Symbols

KIAA1616; LTRPC3; GON-2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 179 variants
8 papers
NM_001366145.2
p.V1002M
c.3004G>A
8 papers
NM_020952.6
p.V837M
c.2509G>A
7 papers
NM_001366145.2
p.I65M
c.195A>G
6 papers
NM_001366145.2
p.P1102Q
c.3305C>A
6 papers
NM_001366145.2
p.N1126D
c.3376A>G
6 papers
NM_001366145.2
p.S1133P
c.3397T>C
5 papers
NM_001366145.2
p.D614V
c.1841A>T
5 papers
NM_001366145.2
p.L769V
c.2305C>G
5 papers
NM_001366145.2
p.E837K
c.2509G>A
5 papers
NM_001366145.2
p.V1002L
c.3004G>T
5 papers
NM_001366145.2
p.V1002L
c.3004G>C
5 papers
NM_001366145.2
p.V1002G
c.3005T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."