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.T401S

c.1201A>T

Surrounding Variants

1 paper

NM_002223.4

p.T401S

c.1202C>G

1 paper

NM_002223.4

p.W397C

c.1191G>T

1 paper

NM_002223.4

p.W397C

c.1191G>C

1 paper

NM_002223.4

p.I405V

c.1213A>G

1 paper

NM_002223.4

p.N395K

c.1185C>A

2 papers

NM_002223.4

p.R388W

c.1162C>T

1 paper

NM_002223.4

p.V387I

c.1159G>A

1 paper

NM_002223.4

p.R440*

c.1318C>T

4 papers

NM_002223.4

p.A453V

c.1358C>T

1 paper

NM_002223.4

p.T455_V456ins8

c.1363_1367ins24

1 paper

NM_002223.4

p.R470Splc

c.1409+3A>G

1 paper

NM_002223.4

p.R470Splc

c.1409+5C>G