Varaico: Literature-Extracted Genetic Variants

ITPR3

263 papers

RefSeq Summary

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ...

Pfam Domains

Ins145_P3_recaa 3–230UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 233–433UCSCMIR domain

RYDR_ITPRaa 473–670UCSCRIH domain

RYDR_ITPRaa 1175–1334UCSCRIH domain

RIH_assocaa 1865–1974UCSCRyR and IP3R Homology associated

Ion_transaa 2207–2528UCSCIon transport protein

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor type 3

HGNC Alias Symbol

IP3R3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 332 variants

11 papers

NM_002224.4

p.T1424M

c.4271C>T

11 papers

NM_002224.4

p.R2524C

c.7570C>T

10 papers

NM_002224.4

p.R1850Q

c.5549G>A

6 papers

NM_002224.4

p.V615M

c.1843G>A

6 papers

NM_002224.4

p.F1628L

c.4882T>C

6 papers

NM_002224.4

p.F1628L

c.4884C>A

6 papers

NM_002224.4

p.F1628L

c.4884C>G

6 papers

NM_002224.4

p.L2436V

c.7306C>G

4 papers

NM_002224.4

p.P187S

c.559C>T

4 papers

NM_002224.4

p.R1027H

c.3080G>A

4 papers

NM_002224.4

p.M1064V

c.3190A>G

4 papers

NM_002224.4

p.R1703W

c.5107C>T