Varaico: Literature-Extracted Genetic Variants

Gene:MRPL37
Variant:p.D142E

MRPL37

48 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

PDCD9aa 200–420UCSCMitochondrial 28S ribosomal protein S30 (PDCD9)

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L37

HGNC Alias Symbols

RPML2; MRP-L2; mL37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016491.4
p.D142E
c.426T>A
Surrounding Variants
1 paper
NM_016491.4
p.D142E
c.426T>G
1 paper
NM_016491.4
p.V140fs
c.418_419fs
1 paper
NM_016491.4
p.V140delFs
c.418delG
1 paper
NM_016491.4
p.K125R
c.374A>G
1 paper
NM_016491.4
p.A161T
c.481G>A
1 paper
NM_016491.4
p.R162C
c.484C>T
1 paper
NM_016491.4
p.R162L
c.485G>T
1 paper
NM_016491.4
p.W122C
c.366G>C
1 paper
NM_016491.4
p.W122C
c.366G>T
1 paper
NM_016491.4
p.W164*
c.491G>A
1 paper
NM_016491.4
p.W164*
c.492G>A
1 paper
NM_016491.4
p.E174fs
c.520_521fs
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