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

1–12 of 389 variants

6 papers

NM_002223.4

p.G2498S

c.7492G>A

5 papers

NM_002223.4

p.R1180Q

c.3539G>A

4 papers

NM_002223.4

p.A453V

c.1358C>T

4 papers

NM_002223.4

p.V2489M

c.7465G>A

3 papers

NM_002223.4

p.P525L

c.1574C>T

3 papers

NM_002223.4

p.V1162G

c.3485T>G

3 papers

NM_002223.4

p.A1212V

c.3635C>T

3 papers

NM_002223.4

p.H2118_N2119delFs

c.6354_6355delTG

3 papers

NM_002223.4

p.M2443T

c.7328T>C

2 papers

NM_002223.4

p.P204P

c.612A>T

2 papers

NM_002223.4

p.E255E

c.765A>G

2 papers

NM_002223.4

p.R388W

c.1162C>T