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.A2141D

c.6422C>A

Surrounding Variants

1 paper

NM_001036.6

p.A2151A

c.6453G>A

1 paper

NM_001036.6

p.E2155*

c.6463G>T

1 paper

NM_001036.6

p.A2127Splc

c.6379+1G>A

1 paper

NM_001036.6

p.E2120G

c.6359A>G

1 paper

NM_001036.6

p.R2095H

c.6284G>A

1 paper

NM_001036.6

p.A2085V

c.6254C>T

1 paper

NM_001036.6

p.Q2083P

c.6248A>C

4 papers

NM_001036.6

p.M2070V

c.6208A>G

1 paper

NM_001036.6

p.N2042T

c.6125A>C

1 paper

NM_001036.6

p.N2042S

c.6125A>G

1 paper

NM_001036.6

p.M2040V

c.6118A>G

1 paper

NM_001036.6

p.L2038L

c.6114G>A