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.F250L

c.750T>G

Surrounding Variants

1 paper

NM_001378452.1

p.F250L

c.750T>A

1 paper

NM_001378452.1

p.F250L

c.748T>C

1 paper

NM_001378452.1

p.K249Q

c.745A>C

1 paper

NM_001378452.1

p.T252I

c.755C>T

1 paper

NM_001378452.1

p.E246D

c.738G>C

1 paper

NM_001378452.1

p.E246D

c.738G>T

3 papers

NM_001378452.1

p.E246K

c.736G>A

2 papers

NM_001378452.1

p.H244R

c.731A>G

1 paper

NM_001378452.1

p.K258Q

c.772A>C

1 paper

NM_001378452.1

p.K258M

c.773A>T

1 paper

NM_001378452.1

p.K259Q

c.775A>C

9 papers

NM_001378452.1

p.R241K

c.722G>A