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.D2027G

c.6080A>G

Surrounding Variants

1 paper

NM_002224.4

p.V2028I

c.6082G>A

2 papers

NM_002224.4

p.Y2033*

c.6099C>A

2 papers

NM_002224.4

p.Y2033*

c.6099C>G

1 paper

NM_002224.4

p.S2045G

c.6133A>G

1 paper

NM_002224.4

p.Y2054C

c.6161A>G

1 paper

NM_002224.4

p.A2057V

c.6170C>T

1 paper

NM_002224.4

p.R2007Q

c.6020G>A

1 paper

NM_002224.4

p.R2007W

c.6019C>T

1 paper

NM_002224.4

p.L2060I

c.6178C>A

1 paper

NM_002224.4

p.R2076H

c.6227G>A

3 papers

NM_002224.4

p.I2077S

c.6230T>G

1 paper

NM_002224.4

p.G2084V

c.6251G>T