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

13 papers

NM_001378452.1

p.S277I

c.830G>T

Surrounding Variants

3 papers

NM_001378452.1

p.S277R

c.829A>C

2 papers

NM_001378452.1

p.S277R

c.831T>A

2 papers

NM_001378452.1

p.S277R

c.831T>G

1 paper

NM_001378452.1

p.T276P

c.826A>C

8 papers

NM_001378452.1

p.K279E

c.835A>G

1 paper

NM_001378452.1

p.A280_E283del4

c.838_848del12

1 paper

NM_001378452.1

p.A275T

c.823G>A

9 papers

NM_001378452.1

p.A280D

c.839C>A

1 paper

NM_001378452.1

p.A280V

c.839C>T

1 paper

NM_001378452.1

p.Q270H

c.810G>C

1 paper

NM_001378452.1

p.Q270H

c.810G>T

2 papers

NM_001378452.1

p.R269Q

c.806G>A