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.K1694R

c.5081A>G

Surrounding Variants

3 papers

NM_001036.6

p.T1693T

c.5079G>A

1 paper

NM_001036.6

p.L1699L

c.5097G>C

1 paper

NM_001036.6

p.D1678V

c.5033A>T

1 paper

NM_001036.6

p.P1670T

c.5008C>A

1 paper

NM_001036.6

p.P1670S

c.5008C>T

4 papers

NM_001036.6

p.G1664A

c.4991G>C

1 paper

NM_001036.6

p.V1655A

c.4964T>C

1 paper

NM_001036.6

p.P1653L

c.4958C>T

1 paper

NM_001036.6

p.S1647Y

c.4940C>A

1 paper

NM_001036.6

p.E1646K

c.4936G>A

1 paper

NM_001036.6

p.D1645Y

c.4933G>T

1 paper

NM_001036.6

p.P1644L

c.4931C>T