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

Selected Variant

1 paper

NM_002224.4

p.R2309Q

c.6926G>A

Surrounding Variants

1 paper

NM_002224.4

p.R2304C

c.6910C>T

1 paper

NM_002224.4

p.D2317D

c.6951C>T

2 papers

NM_002224.4

p.V2295M

c.6883G>A

1 paper

NM_002224.4

p.L2339R

c.7016T>G

1 paper

NM_002224.4

p.L2344P

c.7031T>C

1 paper

NM_002224.4

p.I2273T

c.6818T>C

1 paper

NM_002224.4

p.R2262H

c.6785G>A

1 paper

NM_002224.4

p.I2245F

c.6733A>T

1 paper

NM_002224.4

p.L2241F

c.6723G>C

1 paper

NM_002224.4

p.L2241F

c.6723G>T

1 paper

NM_002224.4

p.S2236F

c.6707C>T

1 paper

NM_002224.4

p.R2351R

c.7053C>T