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.Y963C

c.2888A>G

Surrounding Variants

1 paper

NM_001036.6

p.E980D

c.2940A>C

1 paper

NM_001036.6

p.E980D

c.2940A>T

1 paper

NM_001036.6

p.R1018C

c.3052C>T

1 paper

NM_001036.6

p.R1028H

c.3083G>A

2 papers

NM_001036.6

p.K1031M

c.3092A>T

1 paper

NM_001036.6

p.R1038Q

c.3113G>A

1 paper

NM_001036.6

p.R1042S

c.3124C>A

1 paper

NM_001036.6

p.R1042H

c.3125G>A

1 paper

NM_001036.6

p.T1043S

c.3127A>T

1 paper

NM_001036.6

p.T1043S

c.3128C>G

1 paper

NM_001036.6

p.L933L

c.2797C>T

1 paper

NM_001036.6

p.V1063_K1065del3

c.3187_3194del9