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.V1867M

c.5599G>A

Surrounding Variants

1 paper

NM_002224.4

p.R1875H

c.5624G>A

1 paper

NM_002224.4

p.R1857C

c.5569C>T

10 papers

NM_002224.4

p.R1850Q

c.5549G>A

1 paper

NM_002224.4

p.R1849H

c.5546G>A

1 paper

NM_002224.4

p.R1849C

c.5545C>T

1 paper

NM_002224.4

p.R1886R

c.5656C>A

1 paper

NM_002224.4

p.S1839L

c.5516C>T

1 paper

NM_002224.4

p.G1837D

c.5510G>A

1 paper

NM_002224.4

p.R1829C

c.5485C>T

1 paper

NM_002224.4

p.E1820K

c.5458G>A

1 paper

NM_002224.4

p.R1819C

c.5455C>T

1 paper

NM_002224.4

p.T1803M

c.5408C>T