Varaico: Literature-Extracted Genetic Variants

Gene:RPL13
Variant:p.R190L

RPL13

72 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_L13eaa 8–187UCSCRibosomal protein L13e

Gene Aliases

HGNC Name

ribosomal protein L13

HGNC Alias Symbols

D16S444E; BBC1; L13; eL13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000977.4
p.R190L
c.569G>T
Surrounding Variants
1 paper
NM_000977.4
p.R190Q
c.569G>A
1 paper
NM_000977.4
p.L191fs
c.571_572fs
1 paper
NM_000977.4
p.L191P
c.572T>C
1 paper
NM_000977.4
p.A189delFs
c.565delG
1 paper
NM_000977.4
p.G193S
c.577G>A
1 paper
NM_000977.4
p.G193D
c.578G>A
1 paper
NM_000977.4
p.A185D
c.554C>A
1 paper
NM_000977.4
p.A185V
c.554C>T
1 paper
NM_000977.4
p.A185P
c.553G>C
1 paper
NM_000977.4
p.A196_D206del11
c.586_617del33
3 papers
NM_000977.4
p.R183H
c.548G>A
5 papers
NM_000977.4
p.R183P
c.548G>C
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