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

4 papers

NM_018146.4

p.V339D

c.1016T>A

Surrounding Variants

2 papers

NM_018146.4

p.V339I

c.1015G>A

2 papers

NM_018146.4

p.V339delins

c.1015_1016delinsAA

1 paper

NM_018146.4

p.Q340*

c.1018C>T

1 paper

NM_018146.4

p.P350S

c.1048C>T

1 paper

NM_018146.4

p.H317Q

c.951C>A

1 paper

NM_018146.4

p.H317Q

c.951C>G

1 paper

NM_018146.4

p.A287S

c.859G>T

1 paper

NM_018146.4

p.Q405H

c.1215G>C

1 paper

NM_018146.4

p.Q405H

c.1215G>T

1 paper

NM_018146.4

p.N267N

c.801T>C

1 paper

NM_018146.4

p.G221E

c.662G>A

1 paper

NM_018146.4

p.P192L

c.575C>T