Varaico: Literature-Extracted Genetic Variants

Gene:MMS19
Variant:p.K1008E

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.K1008E
c.3022A>G
Surrounding Variants
1 paper
NM_022362.5
p.K1007E
c.3019A>G
1 paper
NM_022362.5
p.R1012C
c.3034C>T
1 paper
NM_022362.5
p.K1013E
c.3037A>G
1 paper
NM_022362.5
p.V988_L989Splc
c.2965-1G>A
1 paper
NM_022362.5
p.G1029S
c.3085G>A
7 papers
NM_022362.5
p.G1029D
c.3086G>A
1 paper
NM_022362.5
p.P985S
c.2953C>T
2 papers
NM_022362.5
p.R983H
c.2948G>A
1 paper
NM_022362.5
p.P945S
c.2833C>T
1 paper
NM_022362.5
p.L942L
c.2824C>T
1 paper
NM_022362.5
p.C924*
c.2772C>A
1 paper
NM_022362.5
p.V906L
c.2716G>T
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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."