Varaico: Literature-Extracted Genetic Variants

RPL8

41 papers

RefSeq Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structural...

Pfam Domains

Ribosomal_L2_Naa 1–90UCSCRibosomal Proteins L2, RNA binding N-terminal domain

Ribosomal_L2_Caa 97–234UCSCRibosomal Proteins L2, C-terminal domain

Gene Aliases

HGNC Name

ribosomal protein L8

HGNC Alias Symbols

L8; uL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001317782.2

p.K192K

c.576G>A

Surrounding Variants

1 paper

NM_001317782.2

p.K192R

c.575A>G

1 paper

NM_001317782.2

p.G201S

c.601G>A

1 paper

NM_001317782.2

p.N205Y

c.613A>T

1 paper

NM_001317782.2

p.D176G

c.527A>G

1 paper

NM_001317782.2

p.D176Y

c.526G>T

1 paper

NM_001317782.2

p.S223P

c.667T>C

2 papers

NM_001317782.2

p.R233H

c.698G>A

1 paper

NM_001317782.2

p.L237V

c.709C>G

1 paper

NM_001317782.2

p.R241H

c.722G>A

1 paper

NM_001317782.2

p.V165A

c.494T>C

1 paper

NM_001317782.2

p.V148A

c.443T>C

1 paper

NM_001317782.2

p.T135_S138del4

c.403_413del12