Varaico: Literature-Extracted Genetic Variants

Gene:RPL17
Variant:p.K27M

RPL17

331 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_L22aa 17–151UCSCRibosomal protein L22p/L17e

Gene Aliases

HGNC Name

ribosomal protein L17

HGNC Alias Symbols

L17; uL22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001035006.5
p.K27M
c.80A>T
Surrounding Variants
1 paper
NM_001035006.5
p.K27R
c.80A>G
1 paper
NM_001035006.5
p.F26V
c.76T>G
1 paper
NM_001035006.5
p.H25R
c.74A>G
2 papers
NM_001035006.5
p.R23H
c.68G>A
1 paper
NM_001035006.5
p.L22delFs
c.65_66delAA
2 papers
NM_001035006.5
p.L22P
c.65T>C
1 paper
NM_001035006.5
p.L22V
c.64C>G
1 paper
NM_001035006.5
p.L22I
c.64C>A
1 paper
NM_001035006.5
p.K27_N28Splc
c.81+17T>C
1 paper
NM_001035006.5
p.S20del1
c.58_59delGGA
1 paper
NM_001035006.5
p.S20delFs
c.58_59delGA
1 paper
NM_001035006.5
p.S20T
c.58T>A
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