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.I1277M

c.3831C>G

Surrounding Variants

1 paper

NM_002223.4

p.R1275Q

c.3824G>A

1 paper

NM_002223.4

p.L1284R

c.3851T>G

1 paper

NM_002223.4

p.N1286D

c.3856A>G

1 paper

NM_002223.4

p.R1305G

c.3913C>G

1 paper

NM_002223.4

p.E1334_L1335Splc

c.4002+1G>A

1 paper

NM_002223.4

p.K1226_N1227Splc

c.3679-2A>C

1 paper

NM_002223.4

p.E1334_L1335Splc

c.4003-2A>G

1 paper

NM_002223.4

p.D1341Y

c.4021G>T

1 paper

NM_002223.4

p.D1341D

c.4023C>T

1 paper

NM_002223.4

p.R1349T

c.4046G>C

1 paper

NM_002223.4

p.F1352C

c.4055T>G

1 paper

NM_002223.4

p.E1362G

c.4085A>G