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.W880*

c.2640G>A

Surrounding Variants

1 paper

NM_001036.6

p.W880*

c.2639G>A

1 paper

NM_001036.6

p.L872insFs

c.2614_2615ins5

1 paper

NM_001036.6

p.R869Q

c.2606G>A

1 paper

NM_001036.6

p.H864L

c.2591A>T

1 paper

NM_001036.6

p.N898S

c.2693A>G

1 paper

NM_001036.6

p.R900S

c.2700A>C

1 paper

NM_001036.6

p.R900S

c.2700A>T

4 papers

NM_001036.6

p.K916T

c.2747A>C

1 paper

NM_001036.6

p.N917delFs

c.2749delA

1 paper

NM_001036.6

p.N919T

c.2756A>C

1 paper

NM_001036.6

p.L933L

c.2797C>T

1 paper

NM_001036.6

p.Y963C

c.2888A>G