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.V622A

c.1865T>C

Surrounding Variants

1 paper

NM_002224.4

p.R623H

c.1868G>A

6 papers

NM_002224.4

p.V615M

c.1843G>A

2 papers

NM_002224.4

p.K612R

c.1835A>G

1 paper

NM_002224.4

p.E607K

c.1819G>A

1 paper

NM_002224.4

p.Q582*

c.1744C>T

1 paper

NM_002224.4

p.G579R

c.1735G>A

1 paper

NM_002224.4

p.G579R

c.1735G>C

1 paper

NM_002224.4

p.L631insFs

c.1891_1892insG

1 paper

NM_002224.4

p.S635F

c.1904C>T

1 paper

NM_002224.4

p.S640F

c.1919C>T

1 paper

NM_002224.4

p.V647I

c.1939G>A

1 paper

NM_002224.4

p.L651L

c.1953C>G