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.T808I

c.2423C>T

Surrounding Variants

1 paper

NM_002224.4

p.P807H

c.2420C>A

1 paper

NM_002224.4

p.T804A

c.2410A>G

1 paper

NM_002224.4

p.D814A

c.2441A>C

1 paper

NM_002224.4

p.R801H

c.2402G>A

1 paper

NM_002224.4

p.F799L

c.2395T>C

1 paper

NM_002224.4

p.V786M

c.2356G>A

1 paper

NM_002224.4

p.R774C

c.2320C>T

1 paper

NM_002224.4

p.D766H

c.2296G>C

1 paper

NM_002224.4

p.K829M

c.2486A>T

1 paper

NM_002224.4

p.S752F

c.2255C>T

1 paper

NM_002224.4

p.F836S

c.2507T>C

1 paper

NM_002224.4

p.Y745S

c.2234A>C