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

2 papers

NM_001036.6

p.D2013N

c.6037G>A

Surrounding Variants

1 paper

NM_001036.6

p.T2014T

c.6042C>T

1 paper

NM_001036.6

p.N2016S

c.6047A>G

1 paper

NM_001036.6

p.L2038L

c.6114G>A

1 paper

NM_001036.6

p.M2040V

c.6118A>G

1 paper

NM_001036.6

p.L1986V

c.5956C>G

1 paper

NM_001036.6

p.N2042T

c.6125A>C

1 paper

NM_001036.6

p.N2042S

c.6125A>G

2 papers

NM_001036.6

p.R1980*

c.5938C>T

1 paper

NM_001036.6

p.M1964V

c.5890A>G

1 paper

NM_001036.6

p.T1954I

c.5861C>T

1 paper

NM_001036.6

p.T1954Splc

c.5861-174C>G

4 papers

NM_001036.6

p.M2070V

c.6208A>G