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.V647I

c.1939G>A

Surrounding Variants

1 paper

NM_002224.4

p.L651L

c.1953C>G

1 paper

NM_002224.4

p.I652L

c.1954A>C

1 paper

NM_002224.4

p.S640F

c.1919C>T

1 paper

NM_002224.4

p.S635F

c.1904C>T

1 paper

NM_002224.4

p.S662G

c.1984A>G

1 paper

NM_002224.4

p.L631insFs

c.1891_1892insG

3 papers

NM_002224.4

p.I666L

c.1996A>C

1 paper

NM_002224.4

p.E669Splc

c.2006+249C>G

1 paper

NM_002224.4

p.L670F

c.2008C>T

1 paper

NM_002224.4

p.V673M

c.2017G>A

1 paper

NM_002224.4

p.E686*

c.2056G>T

1 paper

NM_002224.4

p.E690V

c.2069A>T