Varaico: Literature-Extracted Genetic Variants

Gene:RPL22
Variant:p.E45insFs

RPL22

196 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_L22eaa 16–125UCSCRibosomal L22e protein family

Gene Aliases

HGNC Name

ribosomal protein L22

HGNC Alias Symbols

EAP; L22; eL22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000983.4
p.E45insFs
c.133_134insA
Surrounding Variants
1 paper
NM_000983.4
p.E45*
c.133G>T
2 papers
NM_000983.4
p.L43_Q44del2
c.127_131del6
2 papers
NM_000983.4
p.Q44_E45insA
c.130_134ins3
1 paper
NM_000983.4
p.L43insFs
c.128dupT
1 paper
NM_000983.4
p.Q41*
c.121C>T
1 paper
NM_000983.4
p.E40del1
c.118_119delCTC
1 paper
NM_000983.4
p.V49E
c.146T>A
1 paper
NM_000983.4
p.N50Y
c.148A>T
1 paper
NM_000983.4
p.G51R
c.151G>C
1 paper
NM_000983.4
p.G51R
c.151G>A
1 paper
NM_000983.4
p.G54R
c.160G>A
2 papers
NM_000983.4
p.N55D
c.163A>G
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