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.N215I

c.644A>T

Surrounding Variants

1 paper

NM_002223.4

p.R230*

c.688C>T

1 paper

NM_002223.4

p.C206Y

c.617G>A

2 papers

NM_002223.4

p.P204P

c.612A>T

1 paper

NM_002223.4

p.G237E

c.710G>A

1 paper

NM_002223.4

p.V239I

c.715G>A

1 paper

NM_002223.4

p.P192L

c.575C>T

1 paper

NM_002223.4

p.V239A

c.716T>C

1 paper

NM_002223.4

p.G190G

c.570G>C

1 paper

NM_002223.4

p.R241K

c.722G>A

1 paper

NM_002223.4

p.A189A

c.567A>G

1 paper

NM_002223.4

p.H244fs

c.730_731fs

1 paper

NM_002223.4

p.E246K

c.736G>A