Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.L293Splc

MRPS22

79 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

MRP-S22aa 67–308UCSCMitochondrial 28S ribosomal protein S22

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S22

HGNC Alias Symbols

MRP-S22; GK002; GIBT; mS22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020191.4
p.L293Splc
c.878+1G>T
Surrounding Variants
1 paper
NM_020191.4
p.Q290E
c.868C>G
1 paper
NM_020191.4
p.R256C
c.766C>T
2 papers
NM_020191.4
p.R256_G257delFs
c.768_769delTG
1 paper
NM_020191.4
p.I253T
c.758T>C
1 paper
NM_020191.4
p.K248fs
c.742_743fs
1 paper
NM_020191.4
p.H247Q
c.741C>A
1 paper
NM_020191.4
p.H247Q
c.741C>G
2 papers
NM_020191.4
p.K244_V245Splc
c.732+1G>A
1 paper
NM_020191.4
p.S239Y
c.716C>A
1 paper
NM_020191.4
p.A233D
c.698C>A
1 paper
NM_020191.4
p.T217I
c.650C>T
1 paper
NM_020191.4
p.R216_T217Splc
c.648+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."