Varaico: Literature-Extracted Genetic Variants

Gene:RPL14
Variant:p.K147E

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
2 papers
NM_001034996.3
p.K147E
c.439A>G
Surrounding Variants
1 paper
NM_001034996.3
p.K147T
c.440A>C
1 paper
NM_001034996.3
p.K147N
c.441G>C
1 paper
NM_001034996.3
p.K147N
c.441G>T
1 paper
NM_001034996.3
p.G148A
c.443G>C
1 paper
NM_001034996.3
p.T149del1
c.445_446delACT
1 paper
NM_001034996.3
p.T149_A153del5
c.445_458del15
1 paper
NM_001034996.3
p.T149insFs
c.445_446insC
4 papers
NM_001034996.3
p.T149insFs
c.445_446insCT
6 papers
NM_001034996.3
p.A159ins0
c.475_477dupGCT
1 paper
NM_001034996.3
p.T149insFs
c.445_446ins5
8 papers
NM_001034996.3
p.A158_A159ins0
c.472_477dup6
9 papers
NM_001034996.3
p.T149ins3
c.445_446ins9
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