Varaico: Literature-Extracted Genetic Variants

Gene:MMS19
Variant:p.L245delFs

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.L245delFs
c.733_734delAG
Surrounding Variants
1 paper
NM_022362.5
p.L245fs
c.733_734fs
1 paper
NM_022362.5
p.T252del1
c.754_756delTGT
1 paper
NM_022362.5
p.D232H
c.694G>C
2 papers
NM_022362.5
p.V271I
c.811G>A
1 paper
NM_022362.5
p.C286insFs
c.856_857ins4
1 paper
NM_022362.5
p.A284_C285delFs
c.851_854del4
1 paper
NM_022362.5
p.S300I
c.899G>T
1 paper
NM_022362.5
p.T312M
c.935C>T
1 paper
NM_022362.5
p.D343G
c.1028A>G
1 paper
NM_022362.5
p.D346H
c.1036G>C
1 paper
NM_022362.5
p.P363S
c.1087C>T
1 paper
NM_022362.5
p.L367R
c.1100T>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."