Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.V39E

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.V39E
c.116T>A
Surrounding Variants
1 paper
NM_000975.5
p.L40*
c.119T>A
1 paper
NM_000975.5
p.E41*
c.121G>T
1 paper
NM_000975.5
p.Q42*
c.124C>T
1 paper
NM_000975.5
p.Q42H
c.126G>C
1 paper
NM_000975.5
p.Q42H
c.126G>T
1 paper
NM_000975.5
p.T44_P48delFs
c.130_142del13
1 paper
NM_000975.5
p.R35*
c.103C>T
1 paper
NM_000975.5
p.T44fs
c.130_131fs
1 paper
NM_000975.5
p.R35_Q42delFs
c.103_125del23
1 paper
NM_000975.5
p.T34insFs
c.100dupA
1 paper
NM_000975.5
p.L33_T34insC
c.97_101ins3
1 paper
NM_000975.5
p.L33fs
c.97_98fs
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