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.G1186Splc

c.3556+34A>G

Surrounding Variants

1 paper

NM_001036.6

p.E1175K

c.3523G>A

1 paper

NM_001036.6

p.N1171K

c.3513C>A

1 paper

NM_001036.6

p.N1171K

c.3513C>G

1 paper

NM_001036.6

p.T1170N

c.3509C>A

1 paper

NM_001036.6

p.G1149A

c.3446G>C

1 paper

NM_001036.6

p.G1136V

c.3407G>T

1 paper

NM_001036.6

p.Q1133*

c.3397C>T

1 paper

NM_001036.6

p.H1132fs

c.3394_3395fs

1 paper

NM_001036.6

p.R1130H

c.3389G>A

1 paper

NM_001036.6

p.G1125D

c.3374G>A

1 paper

NM_001036.6

p.P1106delFs

c.3316delC

1 paper

NM_001036.6

p.R1105M

c.3314G>T