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.T273S

c.817A>T

Surrounding Variants

1 paper

NM_002223.4

p.T273S

c.818C>G

1 paper

NM_002223.4

p.R269H

c.806G>A

1 paper

NM_002223.4

p.T267S

c.800C>G

1 paper

NM_002223.4

p.T266T

c.798G>A

1 paper

NM_002223.4

p.K279N

c.837A>T

1 paper

NM_002223.4

p.K279N

c.837A>C

1 paper

NM_002223.4

p.A280E

c.839C>A

1 paper

NM_002223.4

p.R265P

c.794G>C

2 papers

NM_002223.4

p.E255E

c.765A>G

1 paper

NM_002223.4

p.F250S

c.749T>C

1 paper

NM_002223.4

p.E246K

c.736G>A

1 paper

NM_002223.4

p.H244fs

c.730_731fs