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.V1468M

c.4402G>A

Surrounding Variants

1 paper

NM_002224.4

p.R1455H

c.4364G>A

1 paper

NM_002224.4

p.Q1492L

c.4475A>T

1 paper

NM_002224.4

p.R1450_V1451Splc

c.4350+15G>T

1 paper

NM_002224.4

p.A1449V

c.4346C>T

1 paper

NM_002224.4

p.M1428I

c.4284G>A

1 paper

NM_002224.4

p.M1428I

c.4284G>C

1 paper

NM_002224.4

p.M1428I

c.4284G>T

11 papers

NM_002224.4

p.T1424M

c.4271C>T

1 paper

NM_002224.4

p.V1422L

c.4264G>C

1 paper

NM_002224.4

p.V1422L

c.4264G>T

1 paper

NM_002224.4

p.E1408_V1409Splc

c.4225-9A>G

1 paper

NM_002224.4

p.I1406M

c.4218C>G