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.R1072*

c.3214C>T

Surrounding Variants

1 paper

NM_001036.6

p.R1072Q

c.3215G>A

1 paper

NM_001036.6

p.R1075W

c.3223C>T

1 paper

NM_001036.6

p.E1064G

c.3191A>G

1 paper

NM_001036.6

p.V1063_K1065del3

c.3187_3194del9

2 papers

NM_001036.6

p.A1081A

c.3243A>G

1 paper

NM_001036.6

p.V1082G

c.3245T>G

2 papers

NM_001036.6

p.V1101V

c.3303C>T

1 paper

NM_001036.6

p.R1105M

c.3314G>T

1 paper

NM_001036.6

p.P1106delFs

c.3316delC

1 paper

NM_001036.6

p.G1125D

c.3374G>A

1 paper

NM_001036.6

p.R1130H

c.3389G>A

1 paper

NM_001036.6

p.H1132fs

c.3394_3395fs