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.H2118fs

c.6352_6353fs

Surrounding Variants

1 paper

NM_002223.4

p.H2118fs

c.6352_6353fs

3 papers

NM_002223.4

p.H2118_N2119delFs

c.6354_6355delTG

1 paper

NM_002223.4

p.A2116P

c.6346G>C

1 paper

NM_002223.4

p.Q2124*

c.6370C>T

1 paper

NM_002223.4

p.G2129E

c.6386G>A

1 paper

NM_002223.4

p.S2130L

c.6389C>T

1 paper

NM_002223.4

p.S2130S

c.6390G>A

1 paper

NM_002223.4

p.D2133N

c.6397G>A

1 paper

NM_002223.4

p.T2157I

c.6470C>T

2 papers

NM_002223.4

p.K2177Q

c.6529A>C

1 paper

NM_002223.4

p.R2179L

c.6536G>T

1 paper

NM_002223.4

p.F2196V

c.6586T>G