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.R1363*

c.4087A>T

Surrounding Variants

1 paper

NM_002223.4

p.E1362G

c.4085A>G

1 paper

NM_002223.4

p.D1364delFs

c.4090_4091delTC

1 paper

NM_002223.4

p.G1366W

c.4096G>T

1 paper

NM_002223.4

p.D1367E

c.4101T>G

1 paper

NM_002223.4

p.D1367E

c.4101T>A

1 paper

NM_002223.4

p.F1352C

c.4055T>G

1 paper

NM_002223.4

p.H1375H

c.4125C>T

1 paper

NM_002223.4

p.R1349T

c.4046G>C

1 paper

NM_002223.4

p.A1383S

c.4147G>T

1 paper

NM_002223.4

p.A1384S

c.4150G>T

1 paper

NM_002223.4

p.D1341D

c.4023C>T

1 paper

NM_002223.4

p.D1341Y

c.4021G>T