Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

5 papers

NM_001366145.2

p.L769V

c.2305C>G

NM_001366147.2

p.L794V

c.2380C>G

Surrounding Variants

1 paper

NM_001366145.2

p.M767_L768del2

c.2299_2303del6

1 paper

NM_001366145.2

p.R757G

c.2269C>G

1 paper

NM_001366145.2

p.Q749Q

c.2247G>A

1 paper

NM_001366145.2

p.S723F

c.2168C>T

1 paper

NM_001366145.2

p.D699E

c.2097C>G

1 paper

NM_001007471.4

p.V668V

c.2004G>A

1 paper

NM_001366145.2

p.Q669*

c.2005C>T

1 paper

NM_001366145.2

p.W668*

c.2004G>A

1 paper

NM_001366145.2

p.Q661R

c.1982A>G

2 papers

NM_001007471.4

p.K614M

c.1841A>T

1 paper

NM_001366145.2

p.D615N

c.1843G>A

5 papers

NM_001366145.2

p.D614V

c.1841A>T