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.D2576E

c.7728T>G

Surrounding Variants

1 paper

NM_001036.6

p.D2576E

c.7728T>A

1 paper

NM_001036.6

p.A2572D

c.7715C>A

1 paper

NM_001036.6

p.I2582T

c.7745T>C

1 paper

NM_001036.6

p.T2585R

c.7754C>G

1 paper

NM_001036.6

p.A2594V

c.7781C>T

1 paper

NM_001036.6

p.N2604K

c.7812C>A

1 paper

NM_001036.6

p.N2604K

c.7812C>G

1 paper

NM_001036.6

p.L2549I

c.7645C>A

1 paper

NM_001036.6

p.L2541I

c.7621C>A

1 paper

NM_001036.6

p.T2538M

c.7613C>T

1 paper

NM_001036.6

p.S2526C

c.7576A>T

1 paper

NM_001036.6

p.P2521delFs

c.7563delT