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.D836Y

c.2506G>T

Surrounding Variants

1 paper

NM_001036.6

p.D836E

c.2508T>A

1 paper

NM_001036.6

p.D836E

c.2508T>G

1 paper

NM_001036.6

p.D832Y

c.2494G>T

5 papers

NM_001036.6

p.R829H

c.2486G>A

1 paper

NM_001036.6

p.R829S

c.2485C>A

1 paper

NM_001036.6

p.E826Q

c.2476G>C

1 paper

NM_001036.6

p.M819T

c.2456T>C

1 paper

NM_001036.6

p.K818N

c.2454G>C

1 paper

NM_001036.6

p.K818N

c.2454G>T

1 paper

NM_001036.6

p.T856S

c.2566A>T

1 paper

NM_001036.6

p.T856S

c.2567C>G

1 paper

NM_001036.6

p.Q858_V859Splc

c.2574+3A>C