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.N204T

c.611A>C

Surrounding Variants

1 paper

NM_002224.4

p.E200G

c.599A>G

1 paper

NM_002224.4

p.E200K

c.598G>A

1 paper

NM_002224.4

p.Y199S

c.596A>C

1 paper

NM_002224.4

p.A196T

c.586G>A

1 paper

NM_002224.4

p.G191R

c.571G>A

1 paper

NM_002224.4

p.G191R

c.571G>C

1 paper

NM_002224.4

p.A190V

c.569C>T

4 papers

NM_002224.4

p.P187S

c.559C>T

1 paper

NM_002224.4

p.I184S

c.551T>G

1 paper

NM_002224.4

p.V183V

c.549G>A

1 paper

NM_002224.4

p.N176_V177Splc

c.529-15C>T

1 paper

NM_002224.4

p.N176_V177Splc

c.528+1G>A