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

5 papers

NM_001036.6

p.R2233Q

c.6698G>A

Surrounding Variants

1 paper

NM_001036.6

p.A2214T

c.6640G>A

1 paper

NM_001036.6

p.L2256F

c.6766C>T

1 paper

NM_001036.6

p.D2257Y

c.6769G>T

1 paper

NM_001036.6

p.V2267Splc

c.6800+2T>A

2 papers

NM_001036.6

p.G2270E

c.6809G>A

1 paper

NM_001036.6

p.V2279M

c.6835G>A

2 papers

NM_001036.6

p.N2283H

c.6847A>C

1 paper

NM_001036.6

p.A2284T

c.6850G>A

1 paper

NM_001036.6

p.H2304R

c.6911A>G

1 paper

NM_001036.6

p.G2311R

c.6931G>A

1 paper

NM_001036.6

p.F2368S

c.7103T>C

1 paper

NM_001036.6

p.T2379T

c.7137T>G