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

2 papers

NM_002224.4

p.L2436I

c.7306C>A

Surrounding Variants

6 papers

NM_002224.4

p.L2436V

c.7306C>G

1 paper

NM_002224.4

p.L2436fs

c.7306_7307fs

1 paper

NM_002224.4

p.S2426I

c.7277G>T

1 paper

NM_002224.4

p.G2417E

c.7250G>A

1 paper

NM_002224.4

p.G2469V

c.7406G>T

1 paper

NM_002224.4

p.R2471H

c.7412G>A

1 paper

NM_002224.4

p.E2398Q

c.7192G>C

1 paper

NM_002224.4

p.E2398*

c.7192G>T

1 paper

NM_002224.4

p.V2386I

c.7156G>A

1 paper

NM_002224.4

p.L2377L

c.7131C>T

1 paper

NM_002224.4

p.A2373A

c.7119C>T

1 paper

NM_002224.4

p.T2354M

c.7061C>T