Varaico: Literature-Extracted Genetic Variants

ITPR2

237 papers

RefSeq Summary

The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in...

Pfam Domains

Ins145_P3_recaa 4–229UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 232–435UCSCMIR domain

RYDR_ITPRaa 473–670UCSCRIH domain

RYDR_ITPRaa 1183–1345UCSCRIH domain

RIH_assocaa 1912–2022UCSCRyR and IP3R Homology associated

Ion_transaa 2260–2552UCSCIon transport protein

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor type 2

HGNC Alias Symbols

IP3R2; CFAP48

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002223.4

p.R558R

c.1674C>T

Surrounding Variants

2 papers

NM_002223.4

p.R558H

c.1673G>A

1 paper

NM_002223.4

p.V559I

c.1675G>A

1 paper

NM_002223.4

p.Q565R

c.1694A>G

1 paper

NM_002223.4

p.Q565fs

c.1693_1694fs

1 paper

NM_002223.4

p.R568W

c.1702C>T

1 paper

NM_002223.4

p.R568G

c.1702C>G

1 paper

NM_002223.4

p.Q571insFs

c.1711_1712insG

3 papers

NM_002223.4

p.P525L

c.1574C>T

1 paper

NM_002223.4

p.A524T

c.1570G>A

1 paper

NM_002223.4

p.M509I

c.1527G>T

1 paper

NM_002223.4

p.M509I

c.1527G>C

1 paper

NM_002223.4

p.M509I

c.1527G>A