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

1–12 of 667 variants

6 papers

NM_001036.6

p.R2980L

c.8939G>T

5 papers

NM_001036.6

p.R829H

c.2486G>A

5 papers

NM_001036.6

p.R2233Q

c.6698G>A

5 papers

NM_001036.6

p.E3119K

c.9355G>A

4 papers

NM_001036.6

p.K916T

c.2747A>C

4 papers

NM_001036.6

p.K1239R

c.3716A>G

4 papers

NM_001036.6

p.T1349I

c.4046C>T

4 papers

NM_001036.6

p.G1412S

c.4234G>A

4 papers

NM_001036.6

p.G1664A

c.4991G>C

4 papers

NM_001036.6

p.M2070V

c.6208A>G

4 papers

NM_001036.6

p.T2847A

c.8539A>G

3 papers

NM_001036.6

p.N426S

c.1277A>G