Varaico: Literature-Extracted Genetic Variants

Gene:FTSJ1
Variant:p.Q134H

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.Q134H
c.402G>C
Surrounding Variants
1 paper
NM_012280.4
p.Q134H
c.402G>T
1 paper
NM_012280.4
p.A138_A139Splc
c.414+4A>G
1 paper
NM_012280.4
p.D128N
c.382G>A
1 paper
NM_012280.4
p.H125N
c.373C>A
2 papers
NM_012280.4
p.L124F
c.370C>T
1 paper
NM_012280.4
p.V121fs
c.361_362fs
1 paper
NM_012280.4
p.V121Splc
c.362-2A>T
1 paper
NM_012280.4
p.A139S
c.415G>T
1 paper
NM_012280.4
p.T144A
c.430A>G
1 paper
NM_012280.4
p.R159R
c.475C>A
1 paper
NM_012280.4
p.F173insFs
c.518dupT
1 paper
NM_012280.4
p.A180G
c.539C>G
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