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

11 papers

NM_001378452.1

p.R36C

c.106C>T

Surrounding Variants

1 paper

NM_001378452.1

p.R36H

c.107G>A

1 paper

NM_001378452.1

p.R36P

c.107G>C

1 paper

NM_001378452.1

p.C37S

c.109T>A

1 paper

NM_001378452.1

p.C37S

c.110G>C

1 paper

NM_001378452.1

p.D34V

c.101A>T

2 papers

NM_001378452.1

p.D34N

c.100G>A

1 paper

NM_001378452.1

p.D34delFs

c.101_102delAT

1 paper

NM_001378452.1

p.V33_D35Fs

c.98_104delinsTCCFs

1 paper

NM_001378452.1

p.V33G

c.98T>G

1 paper

NM_001378452.1

p.V33L

c.97G>C

1 paper

NM_001378452.1

p.V33fs

c.97_98fs

1 paper

NM_001378452.1

p.L32delFs

c.96delG