Varaico: Literature-Extracted Genetic Variants

ITPR3

263 papers

RefSeq Summary

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ...

Pfam Domains

Ins145_P3_recaa 3–230UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 233–433UCSCMIR domain

RYDR_ITPRaa 473–670UCSCRIH domain

RYDR_ITPRaa 1175–1334UCSCRIH domain

RIH_assocaa 1865–1974UCSCRyR and IP3R Homology associated

Ion_transaa 2207–2528UCSCIon transport protein

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor type 3

HGNC Alias Symbol

IP3R3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002224.4

p.G1217G

c.3651T>C

Surrounding Variants

1 paper

NM_002224.4

p.M1221T

c.3662T>C

1 paper

NM_002224.4

p.G1241S

c.3721G>A

1 paper

NM_002224.4

p.M1264T

c.3791T>C

1 paper

NM_002224.4

p.H1285N

c.3853C>A

1 paper

NM_002224.4

p.T1292M

c.3875C>T

1 paper

NM_002224.4

p.H1304Y

c.3910C>T

1 paper

NM_002224.4

p.Q1318L

c.3953A>T

1 paper

NM_002224.4

p.M1182T

c.3545T>C

1 paper

NM_002224.4

p.E1163D

c.3489G>C

1 paper

NM_002224.4

p.E1163D

c.3489G>T

1 paper

NM_002224.4

p.E1154A

c.3461A>C

1 paper

NM_002224.4

p.D1338N

c.4012G>A