Varaico: Literature-Extracted Genetic Variants

Gene:MMS19
Variant:p.R188C

MMS19

82 papers

Pfam Domains

MMS19_Naa 50–311UCSCDos2-interacting transcription regulator of RNA-Pol-II
MMS19_Caa 555–982UCSCRNAPII transcription regulator C-terminal

Gene Aliases

HGNC Name

MMS19 cytosolic iron-sulfur assembly component

HGNC Previous Symbol

MMS19L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022362.5
p.R188C
c.562C>T
Surrounding Variants
1 paper
NM_022362.5
p.K185delFs
c.554delT
1 paper
NM_022362.5
p.K185fs
c.553_554fs
1 paper
NM_022362.5
p.D182Y
c.544G>T
2 papers
NM_022362.5
p.D182H
c.544G>C
1 paper
NM_022362.5
p.V197I
c.589G>A
1 paper
NM_022362.5
p.D204H
c.610G>C
1 paper
NM_022362.5
p.A171insFs
c.511_512ins4
1 paper
NM_022362.5
p.G170del1
c.508_510delTCC
1 paper
NM_022362.5
p.L169_G170delFs
c.506_509del4
1 paper
NM_022362.5
p.G208E
c.623G>A
1 paper
NM_022362.5
p.E213del1
c.637_638delCTC
1 paper
NM_022362.5
p.P228_P229Splc
c.684+83A>C
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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."