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

3 papers

NM_002223.4

p.A1212V

c.3635C>T

Surrounding Variants

1 paper

NM_002223.4

p.R1205Q

c.3614G>A

2 papers

NM_002223.4

p.R1200Q

c.3599G>A

1 paper

NM_002223.4

p.Y1224C

c.3671A>G

1 paper

NM_002223.4

p.R1200W

c.3598C>T

5 papers

NM_002223.4

p.R1180Q

c.3539G>A

1 paper

NM_002223.4

p.K1175R

c.3524A>G

1 paper

NM_002223.4

p.N1174Y

c.3520A>T

3 papers

NM_002223.4

p.V1162G

c.3485T>G

1 paper

NM_002223.4

p.K1226_N1227Splc

c.3679-2A>C

1 paper

NM_002223.4

p.R1275Q

c.3824G>A

1 paper

NM_002223.4

p.I1277M

c.3831C>G

1 paper

NM_002223.4

p.L1284R

c.3851T>G