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.N176N

c.528C>T

Surrounding Variants

1 paper

NM_002224.4

p.N176_V177Splc

c.528+1G>A

3 papers

NM_002224.4

p.R171W

c.511C>T

1 paper

NM_002224.4

p.P166H

c.497C>A

1 paper

NM_002224.4

p.G156S

c.466G>A

1 paper

NM_002224.4

p.A154_T155delFs

c.462_463delCA

1 paper

NM_002224.4

p.L152insFs

c.455_456ins8

3 papers

NM_002224.4

p.R149L

c.446G>T

1 paper

NM_002224.4

p.A147T

c.439G>A

1 paper

NM_002224.4

p.R138Q

c.413G>A

1 paper

NM_002224.4

p.N176_V177Splc

c.529-15C>T

1 paper

NM_002224.4

p.V183V

c.549G>A

1 paper

NM_002224.4

p.I184S

c.551T>G