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.E1604*

c.4810G>T

Surrounding Variants

1 paper

NM_002224.4

p.L1606L

c.4818G>A

1 paper

NM_002224.4

p.L1609M

c.4825C>A

1 paper

NM_002224.4

p.V1610A

c.4829T>C

1 paper

NM_002224.4

p.Q1596_D1597Splc

c.4789-9C>T

1 paper

NM_002224.4

p.L1621P

c.4862T>C

6 papers

NM_002224.4

p.F1628L

c.4882T>C

6 papers

NM_002224.4

p.F1628L

c.4884C>A

6 papers

NM_002224.4

p.F1628L

c.4884C>G

1 paper

NM_002224.4

p.I1648insFs

c.4942_4943insT

1 paper

NM_002224.4

p.S1657S

c.4971G>A

1 paper

NM_002224.4

p.K1660*

c.4978A>T

1 paper

NM_002224.4

p.R1667Q

c.5000G>A