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_002222.7

p.A2539P

c.7615G>C

Surrounding Variants

1 paper

NM_002222.7

p.A2539T

c.7615G>A

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

7 papers

NM_001168272.2

p.F2586L

c.7758T>G

NM_001099952.4

p.F2553L

c.7659T>G

NM_001378452.1

p.F2601L

c.7803T>G

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

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.I2598_D2599insT

c.7792_7796ins3

4 papers

NM_001099952.4

p.G2547A

c.7640G>C

NM_001168272.2

p.G2580A

c.7739G>C

16 papers

NM_001168272.2

p.K2596del1

c.7786_7787delAAG

NM_002222.7

p.K2548del1

c.7642_7643delAAG

NM_001378452.1

p.K2611del1

c.7642_7644delAAG

NM_001099952.4

p.K2563del1

c.7831_7832delAAG

1 paper

NM_001378452.1

p.F2594S

c.7781T>C

1 paper

NM_001378452.1

p.L2592L

c.7776G>C