Varaico: Literature-Extracted Genetic Variants

Gene:MRPS27
Variant:p.F204L

MRPS27

34 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-S27aa 1–412UCSCMitochondrial 28S ribosomal protein S27

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S27

HGNC Alias Symbols

KIAA0264; mS27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015084.3
p.F204L
c.612T>G
Surrounding Variants
1 paper
NM_015084.3
p.F204L
c.612T>A
1 paper
NM_015084.3
p.F204L
c.610T>C
2 papers
NM_015084.3
p.L209F
c.627G>T
2 papers
NM_015084.3
p.L209F
c.627G>C
1 paper
NM_015084.3
p.K216_N217delFs
c.648_649delTC
1 paper
NM_015084.3
p.Q238H
c.714A>T
1 paper
NM_015084.3
p.Q238H
c.714A>C
1 paper
NM_015084.3
p.H245D
c.733C>G
1 paper
NM_015084.3
p.P253S
c.757C>T
1 paper
NM_015084.3
p.L275P
c.824T>C
1 paper
NM_015084.3
p.S197R
c.591T>G
1 paper
NM_015084.3
p.S197R
c.591T>A
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