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.G2228D

c.6683G>A

Surrounding Variants

1 paper

NM_002224.4

p.S2230F

c.6689C>T

1 paper

NM_002224.4

p.G2232S

c.6694G>A

1 paper

NM_002224.4

p.G2232C

c.6694G>T

1 paper

NM_002224.4

p.A2212T

c.6634G>A

1 paper

NM_002224.4

p.S2190Splc

c.6568+12C>G

1 paper

NM_002224.4

p.D2173N

c.6517G>A

1 paper

NM_002224.4

p.D2170N

c.6508G>A

1 paper

NM_002224.4

p.V2233M

c.6697G>A

1 paper

NM_002224.4

p.S2236F

c.6707C>T

1 paper

NM_002224.4

p.L2241F

c.6723G>C

1 paper

NM_002224.4

p.L2241F

c.6723G>T

1 paper

NM_002224.4

p.I2245F

c.6733A>T