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.K2554I

c.7661A>T

Surrounding Variants

1 paper

NM_002223.4

p.Q2552*

c.7654C>T

1 paper

NM_002223.4

p.S2549R

c.7647C>G

1 paper

NM_002223.4

p.S2549R

c.7647C>A

1 paper

NM_002223.4

p.S2549R

c.7645A>C

1 paper

NM_002223.4

p.C2565C

c.7695T>C

1 paper

NM_002223.4

p.V2539L

c.7615G>C

1 paper

NM_002223.4

p.R2517Q

c.7550G>A

1 paper

NM_002223.4

p.S2508L

c.7523C>T

1 paper

NM_002223.4

p.R2506R

c.7518G>A

1 paper

NM_002223.4

p.D2502fs

c.7504_7505fs

6 papers

NM_002223.4

p.G2498S

c.7492G>A

1 paper

NM_002223.4

p.V2489G

c.7466T>G