Varaico: Literature-Extracted Genetic Variants

Gene:RPL14
Variant:p.M50insFs

RPL14

91 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_L14eaa 46–120UCSCRibosomal protein L14

Gene Aliases

HGNC Name

ribosomal protein L14

HGNC Alias Symbols

L14; hRL14; RL14; CTG-B33; eL14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001034996.3
p.M50insFs
c.149_150ins4
Surrounding Variants
2 papers
NM_001034996.3
p.M50K
c.149T>A
1 paper
NM_001034996.3
p.M50delFs
c.149delT
1 paper
NM_001034996.3
p.M50_P51delFs
c.149_153del5
1 paper
NM_001034996.3
p.K53E
c.157A>G
1 paper
NM_001034996.3
p.K53M
c.158A>T
1 paper
NM_001034996.3
p.V45M
c.133G>A
1 paper
NM_001034996.3
p.T58_D59del2
c.172_176del6
1 paper
NM_001034996.3
p.G40G
c.120A>T
1 paper
NM_001034996.3
p.H66Y
c.196C>T
2 papers
NM_001034996.3
p.H66Q
c.198C>A
2 papers
NM_001034996.3
p.H66Q
c.198C>G
1 paper
NM_001034996.3
p.N34T
c.101A>C
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