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.E3119K

c.9355G>A

Surrounding Variants

1 paper

NM_001036.6

p.A3118T

c.9352G>A

1 paper

NM_001036.6

p.Q3106*

c.9316C>T

1 paper

NM_001036.6

p.D3099D

c.9297C>T

2 papers

NM_001036.6

p.C3139*

c.9417C>A

1 paper

NM_001036.6

p.W3145R

c.9433T>A

1 paper

NM_001036.6

p.W3145R

c.9433T>C

1 paper

NM_001036.6

p.G3149D

c.9446G>A

1 paper

NM_001036.6

p.P3155T

c.9463C>A

1 paper

NM_001036.6

p.G3174G

c.9522C>A

1 paper

NM_001036.6

p.I3176N

c.9527T>A

1 paper

NM_001036.6

p.M3192I

c.9576G>A

1 paper

NM_001036.6

p.M3192I

c.9576G>C