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

1 paper

NM_001366145.2

p.I1114V

c.3340A>G

Surrounding Variants

1 paper

NM_001366145.2

p.A1112S

c.3334G>T

1 paper

NM_001366145.2

p.V1111M

c.3331G>A

1 paper

NM_001366147.2

p.Y1133H

c.3397T>C

1 paper

NM_001366145.2

p.V1123I

c.3367G>A

8 papers

NM_020952.6

p.P937Q

c.2810C>A

NM_001366145.2

p.P1102Q

c.3305C>A

NM_001366147.2

p.P1127Q

c.3380C>A

2 papers

NM_001366145.2

p.G1086S

c.3256G>A

1 paper

NM_001366145.2

p.N1080I

c.3239A>T

6 papers

NM_001366145.2

p.N1126D

c.3376A>G

1 paper

NM_001366145.2

p.K1132E

c.3394A>G

6 papers

NM_001366145.2

p.S1133P

c.3397T>C

1 paper

NM_001366141.2

p.N1126D

c.3376A>G

1 paper

NM_001366145.2

p.W1139S

c.3416G>C