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.R2852H

c.8555G>A

Surrounding Variants

2 papers

NM_001036.6

p.K2857E

c.8569A>G

4 papers

NM_001036.6

p.T2847A

c.8539A>G

1 paper

NM_001036.6

p.F2871L

c.8611T>C

1 paper

NM_001036.6

p.F2871L

c.8613C>A

1 paper

NM_001036.6

p.F2871L

c.8613C>G

1 paper

NM_001036.6

p.G2890R

c.8668G>A

1 paper

NM_001036.6

p.G2890R

c.8668G>C

1 paper

NM_001036.6

p.F2816F

c.8448T>C

1 paper

NM_001036.6

p.E2898K

c.8692G>A

1 paper

NM_001036.6

p.E2898*

c.8692G>T

1 paper

NM_001036.6

p.D2808N

c.8422G>A

1 paper

NM_001036.6

p.M2805V

c.8413A>G