Varaico: Literature-Extracted Genetic Variants

Gene:FTSJ1
Variant:p.E191Splc

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
4 papers
NM_012280.4
p.E191Splc
c.571+1G>A
Surrounding Variants
1 paper
NM_012280.4
p.R186Q
c.557G>A
1 paper
NM_012280.4
p.A180G
c.539C>G
1 paper
NM_012280.4
p.F173insFs
c.518dupT
1 paper
NM_012280.4
p.E191Splc
c.571+69C>T
1 paper
NM_012280.4
p.R159R
c.475C>A
1 paper
NM_012280.4
p.A194G
c.581C>G
1 paper
NM_012280.4
p.V195V
c.585C>T
1 paper
NM_012280.4
p.L214insFs
c.641_642insC
5 papers
NM_012280.4
p.D219N
c.655G>A
1 paper
NM_012280.4
p.T144A
c.430A>G
1 paper
NM_012280.4
p.A139S
c.415G>T
1 paper
NM_012280.4
p.A138_A139Splc
c.414+4A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."