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

2 papers

NM_001378452.1

p.D1154G

c.3461A>G

NM_001099952.4

p.D1145G

c.3434A>G

Surrounding Variants

1 paper

NM_001378452.1

p.D1154E

c.3462T>A

4 papers

NM_001168272.2

p.M1138V

c.3412A>G

NM_001099952.4

p.M1144V

c.3430A>G

1 paper

NM_001168272.2

p.N1145S

c.3434A>G

1 paper

NM_001378452.1

p.Y1144insFs

c.3431dupA

1 paper

NM_001099952.4

p.E1131A

c.3392A>C

1 paper

NM_001378452.1

p.K1138E

c.3412A>G

1 paper

NM_001099952.4

p.E1128A

c.3383A>C

1 paper

NM_001378452.1

p.D1130G

c.3389A>G

1 paper

NM_001378452.1

p.N1121S

c.3362A>G

1 paper

NM_001378452.1

p.R1095W

c.3283C>T

1 paper

NM_001168272.2

p.A1074V

c.3221C>T

6 papers

NM_001168272.2

p.P1068L

c.3203C>T

NM_002222.7

p.P1059L

c.3176C>T

NM_001099952.4

p.P1074L

c.3221C>T

NM_001378452.1

p.P1083L

c.3248C>T