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.E1770G

c.5309A>G

Surrounding Variants

2 papers

NM_001036.6

p.V1774M

c.5320G>A

1 paper

NM_001036.6

p.G1765G

c.5295A>G

1 paper

NM_001036.6

p.E1763Q

c.5287G>C

1 paper

NM_001036.6

p.G1756insFs

c.5267_5268insT

1 paper

NM_001036.6

p.G1756ins2

c.5267_5268ins6

1 paper

NM_001036.6

p.G1786S

c.5356G>A

1 paper

NM_001036.6

p.I1750N

c.5249T>A

1 paper

NM_001036.6

p.P1800P

c.5400C>G

1 paper

NM_001036.6

p.P1800P

c.5400C>T

1 paper

NM_001036.6

p.E1801K

c.5401G>A

1 paper

NM_001036.6

p.E1801D

c.5403A>C

1 paper

NM_001036.6

p.E1801D

c.5403A>T