Varaico: Literature-Extracted Genetic Variants

Gene:RPL17
Variant:p.Q75E

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
2 papers
NM_001035006.5
p.Q75E
c.223C>G
Surrounding Variants
1 paper
NM_001035006.5
p.K74N
c.222G>C
1 paper
NM_001035006.5
p.Q72_A73Splc
c.217-3C>G
1 paper
NM_001035006.5
p.W83*
c.248G>A
1 paper
NM_001035006.5
p.P84_K85insC
c.250_254ins3
1 paper
NM_001035006.5
p.Q72_A73Splc
c.217-26G>A
1 paper
NM_001035006.5
p.K86*
c.256A>T
1 paper
NM_001035006.5
p.E89Q
c.265G>C
1 paper
NM_001035006.5
p.E89A
c.266A>C
2 papers
NM_001035006.5
p.L91S
c.272T>C
1 paper
NM_001035006.5
p.A98P
c.292G>C
1 paper
NM_001035006.5
p.E99A
c.296A>C
1 paper
NM_001035006.5
p.E103G
c.308A>G
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