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

4 papers

NM_002224.4

p.R1703W

c.5107C>T

Surrounding Variants

1 paper

NM_002224.4

p.L1691M

c.5071C>A

1 paper

NM_002224.4

p.Q1725K

c.5173C>A

1 paper

NM_002224.4

p.R1727Q

c.5180G>A

1 paper

NM_002224.4

p.F1750L

c.5248T>C

1 paper

NM_002224.4

p.F1750L

c.5250C>A

1 paper

NM_002224.4

p.F1750L

c.5250C>G

1 paper

NM_002224.4

p.R1667Q

c.5000G>A

1 paper

NM_002224.4

p.K1660*

c.4978A>T

1 paper

NM_002224.4

p.S1657S

c.4971G>A

1 paper

NM_002224.4

p.I1648insFs

c.4942_4943insT

6 papers

NM_002224.4

p.F1628L

c.4884C>A

6 papers

NM_002224.4

p.F1628L

c.4884C>G