Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.K14*

RPL5

237 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 four RNA species and approximately 80 structu...

Pfam Domains

Ribosomal_L5eaa 14–176UCSCRibosomal large subunit proteins 60S L5, and 50S L18
Ribosomal_L18_caa 236–289UCSCRibosomal L18 C-terminal region

Gene Aliases

HGNC Name

ribosomal protein L5

HGNC Alias Symbols

L5; PPP1R135; uL18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000969.5
p.K14*
c.40A>T
Surrounding Variants
1 paper
NM_000969.5
p.K14_R15insA
c.40_44ins3
1 paper
NM_000969.5
p.K14delFs
c.42delG
1 paper
NM_000969.5
p.K14K
c.42G>A
1 paper
NM_000969.5
p.R15fs
c.43_44fs
2 papers
NM_000969.5
p.F13_K14insFs
c.39_40insT
1 paper
NM_000969.5
p.R15T
c.44G>C
4 papers
NM_000969.5
p.Y16delFs
c.46_47delTA
1 paper
NM_000969.5
p.Y16insFs
c.46_47insA
1 paper
NM_000969.5
p.Y16fs
c.46_47fs
1 paper
NM_000969.5
p.Y16delFs
c.47delA
1 paper
NM_000969.5
p.Y16fs
c.46_47fs
1 paper
NM_000969.5
p.Y16F
c.47A>T
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