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.N1280I

c.3839A>T

Surrounding Variants

1 paper

NM_001036.6

p.A1283A

c.3849C>T

1 paper

NM_001036.6

p.T1272T

c.3816G>A

1 paper

NM_001036.6

p.T1272M

c.3815C>T

1 paper

NM_001036.6

p.C1288Y

c.3863G>A

1 paper

NM_001036.6

p.Q1316L

c.3947A>T

1 paper

NM_001036.6

p.Q1318H

c.3954A>C

1 paper

NM_001036.6

p.Q1318H

c.3954A>T

1 paper

NM_001036.6

p.E1255_V1256Splc

c.3765+1G>A

1 paper

NM_001036.6

p.T1243T

c.3729G>A

1 paper

NM_001036.6

p.T1243M

c.3728C>T

2 papers

NM_001036.6

p.R1240H

c.3719G>A

4 papers

NM_001036.6

p.K1239R

c.3716A>G