Varaico: Literature-Extracted Genetic Variants

RYR3

435 papers

RefSeq Summary

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved...

Pfam Domains

Ins145_P3_recaa 10–213UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 216–398UCSCMIR domain

RYDR_ITPRaa 440–635UCSCRIH domain

SPRYaa 659–794UCSCSPRY domain

RyRaa 849–939UCSCRyR domain

RyRaa 963–1053UCSCRyR domain

Gene Aliases

HGNC Name

ryanodine receptor 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001036.6

p.D1608N

c.4822G>A

Surrounding Variants

1 paper

NM_001036.6

p.Y1607N

c.4819T>A

1 paper

NM_001036.6

p.L1609L

c.4827G>A

1 paper

NM_001036.6

p.G1600S

c.4798G>A

1 paper

NM_001036.6

p.A1618T

c.4852G>A

1 paper

NM_001036.6

p.N1627I

c.4880A>T

1 paper

NM_001036.6

p.S1587T

c.4759T>A

1 paper

NM_001036.6

p.I1631V

c.4891A>G

1 paper

NM_001036.6

p.H1583H

c.4749C>T

1 paper

NM_001036.6

p.P1632L

c.4895C>T

1 paper

NM_001036.6

p.Y1578H

c.4732T>C

1 paper

NM_001036.6

p.A1577T

c.4729G>A

1 paper

NM_001036.6

p.R1575H

c.4724G>A