Varaico: Literature-Extracted Genetic Variants

Gene:FTSJ1
Variant:p.L32P

FTSJ1

58 papers

RefSeq Summary

This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification o...

Pfam Domains

FtsJaa 1–62UCSCFtsJ-like methyltransferase

Gene Aliases

HGNC Name

FtsJ RNA 2'-O-methyltransferase 1

HGNC Previous Symbols

MRX9; MRX44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012280.4
p.L32P
c.95T>C
Surrounding Variants
1 paper
NM_012280.4
p.L29L
c.87G>A
1 paper
NM_012280.4
p.A26G
c.77C>G
7 papers
NM_012280.4
p.A26P
c.76G>C
1 paper
NM_012280.4
p.R24H
c.71G>A
1 paper
NM_012280.4
p.R24P
c.71G>C
1 paper
NM_012280.4
p.R24S
c.70C>A
1 paper
NM_012280.4
p.A23P
c.67G>C
1 paper
NM_012280.4
p.W21fs
c.61_62fs
1 paper
NM_012280.4
p.R14H
c.41G>A
1 paper
NM_012280.4
p.Y12S
c.35A>C
1 paper
NM_012280.4
p.M1K
c.2T>A
1 paper
NM_012280.4
p.M1insFs
c.2dupT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."