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

2 papers

NM_002223.4

p.T2444S

c.7330A>T

Surrounding Variants

2 papers

NM_002223.4

p.T2444S

c.7331C>G

3 papers

NM_002223.4

p.M2443T

c.7328T>C

1 paper

NM_002223.4

p.M2443K

c.7328T>A

1 paper

NM_002223.4

p.L2445S

c.7334T>C

2 papers

NM_002223.4

p.C2457Y

c.7370G>A

1 paper

NM_002223.4

p.P2462A

c.7384C>G

1 paper

NM_002223.4

p.V2434I

c.7300G>A

2 papers

NM_002223.4

p.R2431L

c.7292G>T

1 paper

NM_002223.4

p.D2426N

c.7276G>A

1 paper

NM_002223.4

p.M2423V

c.7267A>G

1 paper

NM_002223.4

p.L2417fs

c.7249_7250fs

1 paper

NM_002223.4

p.L2415delFs

c.7244delA