Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.K192_E193Splc

MRPL28

255 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

Ribosomal_L28aa 76–138UCSCRibosomal L28 family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L28

HGNC Previous Symbol

MAAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006428.5
p.K192_E193Splc
c.576+26C>A
Surrounding Variants
1 paper
NM_006428.5
p.D189G
c.566A>G
1 paper
NM_006428.5
p.D189Y
c.565G>T
1 paper
NM_006428.5
p.A186G
c.557C>G
1 paper
NM_006428.5
p.A185G
c.554C>G
1 paper
NM_006428.5
p.R184R
c.552G>T
1 paper
NM_006428.5
p.R184W
c.550C>T
1 paper
NM_006428.5
p.D180D
c.540C>T
1 paper
NM_006428.5
p.F194S
c.581T>C
1 paper
NM_006428.5
p.E202_W203insT
c.604_608ins3
1 paper
NM_006428.5
p.R171Q
c.512G>A
2 papers
NM_006428.5
p.R171W
c.511C>T
2 papers
NM_006428.5
p.A170V
c.509C>T
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