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

4 papers

NM_001036.6

p.G1412S

c.4234G>A

Surrounding Variants

1 paper

NM_001036.6

p.C1413S

c.4237T>A

1 paper

NM_001036.6

p.C1413S

c.4238G>C

1 paper

NM_001036.6

p.E1410Q

c.4228G>C

1 paper

NM_001036.6

p.V1407M

c.4219G>A

1 paper

NM_001036.6

p.S1405N

c.4214G>A

1 paper

NM_001036.6

p.R1404R

c.4212G>A

1 paper

NM_001036.6

p.S1423F

c.4268C>T

1 paper

NM_001036.6

p.G1428R

c.4282G>A

1 paper

NM_001036.6

p.W1391L

c.4172G>T

1 paper

NM_001036.6

p.W1391G

c.4171T>G

1 paper

NM_001036.6

p.Q1436P

c.4307A>C

4 papers

NM_001036.6

p.T1349I

c.4046C>T