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.G3039R

c.9115G>A

Surrounding Variants

1 paper

NM_001036.6

p.G3039R

c.9115G>C

1 paper

NM_001036.6

p.L3018I

c.9052C>A

1 paper

NM_001036.6

p.I3000V

c.8998A>G

1 paper

NM_001036.6

p.T2981K

c.8942C>A

6 papers

NM_001036.6

p.R2980L

c.8939G>T

2 papers

NM_001036.6

p.F2957L

c.8871T>A

2 papers

NM_001036.6

p.F2957L

c.8871T>G

2 papers

NM_001036.6

p.F2957L

c.8869T>C

1 paper

NM_001036.6

p.L2948M

c.8842C>A

1 paper

NM_001036.6

p.R2939Splc

c.8816+1G>A

2 papers

NM_001036.6

p.R2939S

c.8817G>C

2 papers

NM_001036.6

p.R2939S

c.8817G>T