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.F450S

c.1349T>C

Surrounding Variants

1 paper

NM_001036.6

p.F450L

c.1350C>A

1 paper

NM_001036.6

p.F450L

c.1350C>G

1 paper

NM_001036.6

p.F450L

c.1348T>C

1 paper

NM_001036.6

p.Q451R

c.1352A>G

2 papers

NM_001036.6

p.P452P

c.1356C>T

1 paper

NM_001036.6

p.R458*

c.1372C>T

1 paper

NM_001036.6

p.R467H

c.1400G>A

1 paper

NM_001036.6

p.I432V

c.1294A>G

1 paper

NM_001036.6

p.A430V

c.1289C>T

1 paper

NM_001036.6

p.T428A

c.1282A>G

1 paper

NM_001036.6

p.R427H

c.1280G>A

3 papers

NM_001036.6

p.N426S

c.1277A>G