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.T1401T

c.4203G>A

Surrounding Variants

1 paper

NM_002224.4

p.I1406M

c.4218C>G

3 papers

NM_002224.4

p.D1395E

c.4185C>A

3 papers

NM_002224.4

p.D1395E

c.4185C>G

1 paper

NM_002224.4

p.I1385I

c.4155C>A

1 paper

NM_002224.4

p.N1380N

c.4140C>T

1 paper

NM_002224.4

p.A1374T

c.4120G>A

1 paper

NM_002224.4

p.A1374S

c.4120G>T

1 paper

NM_002224.4

p.D1358_H1359del2

c.4072_4076del6

1 paper

NM_002224.4

p.D1338E

c.4014T>A

1 paper

NM_002224.4

p.D1338E

c.4014T>G

1 paper

NM_002224.4

p.D1338N

c.4012G>A

1 paper

NM_002224.4

p.E1408_V1409Splc

c.4225-9A>G