Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.L344_T345insFs

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
5 papers
NM_020191.4
p.L344_T345insFs
c.1032_1035dup4
Surrounding Variants
1 paper
NM_020191.4
p.E343fs
c.1027_1028fs
6 papers
NM_020191.4
p.L346fs
c.1036_1037fs
1 paper
NM_020191.4
p.I342insFs
c.1025dupT
1 paper
NM_020191.4
p.T348_Y349insFs
c.1043_1046dup4
1 paper
NM_020191.4
p.A340S
c.1018G>T
1 paper
NM_020191.4
p.Q350fs
c.1048_1049fs
2 papers
NM_020191.4
p.Q337*
c.1009C>T
1 paper
NM_020191.4
p.A336A
c.1008A>G
1 paper
NM_020191.4
p.E335A
c.1004A>C
1 paper
NM_020191.4
p.S313L
c.938C>T
1 paper
NM_020191.4
p.L293Splc
c.878+1G>T
1 paper
NM_020191.4
p.Q290E
c.868C>G
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