Varaico: Literature-Extracted Genetic Variants

ITPR1

475 papers

RefSeq Summary

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. M...

Pfam Domains

Ins145_P3_recaa 4–229UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 232–433UCSCMIR domain

RYDR_ITPRaa 474–670UCSCRIH domain

RYDR_ITPRaa 1193–1354UCSCRIH domain

RIH_assocaa 1968–2078UCSCRyR and IP3R Homology associated

Ion_transaa 2321–2609UCSCIon transport protein

Gene Aliases

HGNC Name

inositol 1,4,5-trisphosphate receptor type 1

HGNC Previous Symbols

SCA15; SCA16; SCA29

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378452.1

p.L590F

c.1770G>T

Surrounding Variants

1 paper

NM_001378452.1

p.L590F

c.1770G>C

1 paper

NM_001378452.1

p.A591A

c.1773T>C

1 paper

NM_001378452.1

p.E592V

c.1775A>T

1 paper

NM_001378452.1

p.Y587F

c.1760A>T

9 papers

NM_001378452.1

p.T594I

c.1781C>T

NM_001168272.2

p.T579I

c.1736C>T

1 paper

NM_001378452.1

p.I595V

c.1783A>G

1 paper

NM_001168272.2

p.K568E

c.1702A>G

19 papers

NM_001378452.1

p.N602D

c.1804A>G

NM_001168272.2

p.N587D

c.1759A>G

1 paper

NM_001378452.1

p.R603Q

c.1808G>A

1 paper

NM_001378452.1

p.K604Q

c.1810A>C

1 paper

NM_001378452.1

p.L605F

c.1813C>T

1 paper

NM_001378452.1

p.K576Q

c.1726A>C