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

1–12 of 634 variants

26 papers

NM_001378452.1

p.T267M

c.800C>T

24 papers

NM_001378452.1

p.R269W

c.805C>T

16 papers

NM_001378452.1

p.N602D

c.1804A>G

14 papers

NM_001378452.1

p.P1059L

c.3176C>T

13 papers

NM_001378452.1

p.T267R

c.800C>G

13 papers

NM_001378452.1

p.S277I

c.830G>T

11 papers

NM_001378452.1

p.R36C

c.106C>T

10 papers

NM_001168272.2

p.G2539R

c.7615G>A

10 papers

NM_001168272.2

p.G2539R

c.7615G>C

9 papers

NM_001378452.1

p.R241K

c.722G>A

9 papers

NM_001378452.1

p.A280D

c.839C>A

9 papers

NM_001168272.2

p.K2596del1

c.7786_7787delAAG