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

2 papers

NM_001036.6

p.G2434R

c.7300G>A

Surrounding Variants

2 papers

NM_001036.6

p.G2434R

c.7300G>C

2 papers

NM_001036.6

p.I2417V

c.7249A>G

1 paper

NM_001036.6

p.R2456H

c.7367G>A

1 paper

NM_001036.6

p.D2392Y

c.7174G>T

1 paper

NM_001036.6

p.T2379T

c.7137T>G

1 paper

NM_001036.6

p.F2368S

c.7103T>C

1 paper

NM_001036.6

p.N2475Splc

c.7425-61A>G

1 paper

NM_001036.6

p.L2477L

c.7431G>A

1 paper

NM_001036.6

p.G2311R

c.6931G>A

1 paper

NM_001036.6

p.T2508M

c.7523C>T

1 paper

NM_001036.6

p.P2521delFs

c.7563delT

1 paper

NM_001036.6

p.S2526C

c.7576A>T