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.F2594S

c.7781T>C

Surrounding Variants

4 papers

NM_001099952.4

p.G2547A

c.7640G>C

NM_001168272.2

p.G2580A

c.7739G>C

1 paper

NM_001378452.1

p.L2592L

c.7776G>C

1 paper

NM_001378452.1

p.N2591T

c.7772A>C

5 papers

NM_001168272.2

p.N2576I

c.7727A>T

NM_001378452.1

p.N2591I

c.7772A>T

1 paper

NM_001378452.1

p.I2598_D2599insT

c.7792_7796ins3

5 papers

NM_001099952.4

p.I2550N

c.7649T>A

NM_001168272.2

p.I2583N

c.7748T>A

NM_001378452.1

p.I2598N

c.7793T>A

6 papers

NM_001168272.2

p.I2583T

c.7748T>C

NM_001099952.4

p.I2550T

c.7649T>C

NM_001378452.1

p.I2598T

c.7793T>C

1 paper

NM_001378452.1

p.V2589D

c.7766T>A

4 papers

NM_001168272.2

p.V2574A

c.7721T>C

NM_001099952.4

p.V2541A

c.7622T>C

NM_001378452.1

p.V2589A

c.7766T>C

7 papers

NM_001168272.2

p.F2586L

c.7756T>C

NM_001099952.4

p.F2553L

c.7657T>C

NM_001378452.1

p.F2601L

c.7801T>C

1 paper

NM_001378452.1

p.F2601V

c.7801T>G

7 papers

NM_001168272.2

p.F2586L

c.7758T>A

NM_001099952.4

p.F2553L

c.7659T>A

NM_001378452.1

p.F2601L

c.7803T>A