Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.H33delFs

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.H33delFs
c.97delC
Surrounding Variants
1 paper
NM_020191.4
p.H33fs
c.97_98fs
1 paper
NM_020191.4
p.R28*
c.82C>T
1 paper
NM_020191.4
p.L40_P41insA
c.118_122ins3
1 paper
NM_020191.4
p.V23I
c.67G>A
2 papers
NM_020191.4
p.V23L
c.67G>C
3 papers
NM_020191.4
p.M46R
c.137T>G
1 paper
NM_020191.4
p.R50R
c.150C>T
1 paper
NM_020191.4
p.L14insFs
c.40_41insA
1 paper
NM_020191.4
p.Q88R
c.263A>G
1 paper
NM_020191.4
p.K89T
c.266A>C
1 paper
NM_020191.4
p.F91Y
c.272T>A
2 papers
NM_020191.4
p.I95L
c.283A>C
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