Varaico: Literature-Extracted Genetic Variants

MRM3

35 papers

RefSeq Summary

Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of...

Pfam Domains

MRM3-like_sub_bindaa 108–187UCSCMRM3-like substrate binding domain

SpoU_methylaseaa 209–400UCSCSpoU rRNA Methylase family

Gene Aliases

HGNC Name

mitochondrial rRNA methyltransferase 3

HGNC Previous Symbol

RNMTL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018146.4

p.L104P

c.311T>C

Surrounding Variants

1 paper

NM_018146.4

p.L92P

c.275T>C

1 paper

NM_018146.4

p.L92F

c.274C>T

1 paper

NM_018146.4

p.K73R

c.218A>G

1 paper

NM_018146.4

p.A61V

c.182C>T

1 paper

NM_018146.4

p.R59fs

c.175_176fs

1 paper

NM_018146.4

p.R59delFs

c.175delC

2 papers

NM_018146.4

p.G45E

c.134G>A

1 paper

NM_018146.4

p.P43H

c.128C>A

1 paper

NM_018146.4

p.V11V

c.33C>A

1 paper

NM_018146.4

p.R114T

c.341G>C

1 paper

NM_018146.4

p.R117W

c.349C>T

2 papers

NM_018146.4

p.M143K

c.428T>A