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.G2556R

c.7666G>C

NM_002222.7

p.G2493R

c.7477G>C

Surrounding Variants

2 papers

NM_001378452.1

p.G2556R

c.7666G>A

NM_002222.7

p.G2493R

c.7477G>A

1 paper

NM_001099952.4

p.G2507S

c.7519G>A

1 paper

NM_001378452.1

p.G2554V

c.7661G>T

15 papers

NM_001378452.1

p.G2554R

c.7660G>A

NM_001168272.2

p.G2539R

c.7615G>A

NM_001099952.4

p.G2506R

c.7516G>A

15 papers

NM_001378452.1

p.G2554R

c.7660G>C

NM_001168272.2

p.G2539R

c.7615G>C

NM_001099952.4

p.G2506R

c.7516G>C

1 paper

NM_001168272.2

p.G2539W

c.7615G>T

NM_001099952.4

p.G2506W

c.7516G>T

1 paper

NM_001378452.1

p.R2552Q

c.7655G>A

1 paper

NM_001378452.1

p.G2550R

c.7648G>A

1 paper

NM_001378452.1

p.G2550R

c.7648G>C

5 papers

NM_001378452.1

p.K2563del1

c.7687_7688delAAG

1 paper

NM_001378452.1

p.S2548del1

c.7642_7644delAGT

4 papers

NM_001168272.2

p.V2531M

c.7591G>A

NM_001378452.1

p.V2546M

c.7636G>A