Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.D129V

RPL11

202 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_L5aa 10–63UCSCRibosomal protein L5
Ribosomal_L5_Caa 67–165UCSCribosomal L5P family C-terminus

Gene Aliases

HGNC Name

ribosomal protein L11

HGNC Alias Symbols

L11; uL5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000975.5
p.D129V
c.386A>T
Surrounding Variants
2 papers
NM_000975.5
p.I125M
c.375C>G
3 papers
NM_000975.5
p.V132_V133Splc
c.396+1G>A
4 papers
NM_000975.5
p.V132_V133Splc
c.396+1G>T
1 paper
NM_000975.5
p.V132_V133Splc
c.396+2T>A
2 papers
NM_000975.5
p.V132_V133Splc
c.396+2T>C
3 papers
NM_000975.5
p.V132_V133Splc
c.396+3A>G
1 paper
NM_000975.5
p.I125V
c.373A>G
1 paper
NM_000975.5
p.P121A
c.361C>G
1 paper
NM_000975.5
p.Y119*
c.357T>A
2 papers
NM_000975.5
p.Y119*
c.357T>G
1 paper
NM_000975.5
p.L115R
c.344T>G
1 paper
NM_000975.5
p.I113I
c.339C>T
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