Varaico: Literature-Extracted Genetic Variants

Gene:MRPS7
Variant:p.K119R

MRPS7

36 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_S7aa 66–234UCSCRibosomal protein S7p/S5e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S7

HGNC Alias Symbols

MRP-S; RP-S7; RPMS7; uS7m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015971.4
p.K119R
c.356A>G
Surrounding Variants
1 paper
NM_015971.4
p.K125*
c.373A>T
1 paper
NM_015971.4
p.R139H
c.416G>A
1 paper
NM_015971.4
p.I91N
c.272T>A
1 paper
NM_015971.4
p.E67Q
c.199G>C
1 paper
NM_015971.4
p.E49fs
c.145_146fs
1 paper
NM_015971.4
p.G28Splc
c.84-8C>T
2 papers
NM_015971.4
p.A16V
c.47C>T
4 papers
NM_015971.4
p.A2V
c.5C>T
1 paper
NM_015971.4
p.R179H
c.536G>A
10 papers
NM_015971.4
p.M184V
c.550A>G
1 paper
NM_015971.4
p.R192W
c.574C>T
2 papers
NM_015971.4
p.R198Q
c.593G>A
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