Varaico: Literature-Extracted Genetic Variants

Gene:MRPL17
Variant:p.T81_E82Splc

MRPL17

19 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_L17aa 28–126UCSCRibosomal protein L17

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L17

HGNC Alias Symbols

RPML26; MRP-L26; bL17m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022061.4
p.T81_E82Splc
c.244-81T>G
Surrounding Variants
1 paper
NM_022061.4
p.G103S
c.307G>A
1 paper
NM_022061.4
p.Y104H
c.310T>C
1 paper
NM_022061.4
p.Q109H
c.327G>T
1 paper
NM_022061.4
p.Q109H
c.327G>C
1 paper
NM_022061.4
p.G127G
c.381G>A
1 paper
NM_022061.4
p.L135P
c.404T>C
1 paper
NM_022061.4
p.R137C
c.409C>T
1 paper
NM_022061.4
p.T81R
c.242C>G
1 paper
NM_022061.4
p.K64N
c.192G>T
1 paper
NM_022061.4
p.K64N
c.192G>C
1 paper
NM_022061.4
p.S166delFs
c.496delT
1 paper
NM_022061.4
p.S166fs
c.496_497fs
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