Varaico: Literature-Extracted Genetic Variants

Gene:RPL14
Variant:p.K117E

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.K117E
c.349A>G
Surrounding Variants
1 paper
NM_001034996.3
p.V112D
c.335T>A
2 papers
NM_001034996.3
p.R109H
c.326G>A
1 paper
NM_001034996.3
p.R109S
c.325C>A
1 paper
NM_001034996.3
p.R100_K101Splc
c.301-5A>G
1 paper
NM_001034996.3
p.R100G
c.298A>G
1 paper
NM_001034996.3
p.K93E
c.277A>G
1 paper
NM_001034996.3
p.A92T
c.274G>A
1 paper
NM_001034996.3
p.R74Q
c.221G>A
1 paper
NM_001034996.3
p.R74*
c.220C>T
1 paper
NM_001034996.3
p.Q70*
c.208C>T
1 paper
NM_001034996.3
p.H69P
c.206A>C
1 paper
NM_001034996.3
p.A134V
c.401C>T
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