Varaico: Literature-Extracted Genetic Variants

Gene:MAK16
Variant:p.R122L

MAK16

19 papers

Pfam Domains

Ribosomal_L28eaa 6–119UCSCRibosomal L28e protein family
Mak16aa 138–238UCSCMak16 protein C-terminal region

Gene Aliases

HGNC Name

MAK16 homolog

HGNC Previous Symbol

RBM13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032509.4
p.R122L
c.365G>T
Surrounding Variants
1 paper
NM_032509.4
p.R82Q
c.245G>A
1 paper
NM_032509.4
p.I54V
c.160A>G
1 paper
NM_032509.4
p.Q15K
c.43C>A
1 paper
NM_032509.4
p.K139N
c.417G>C
1 paper
NM_032509.4
p.K139N
c.417G>T
1 paper
NM_032509.4
p.K151E
c.451A>G
1 paper
NM_032509.4
p.Q157*
c.469C>T
1 paper
NM_032509.4
p.D187N
c.559G>A
1 paper
NM_032509.4
p.D233N
c.697G>A
4 papers
NM_032509.4
p.Q277R
c.830A>G
1 paper
NM_032509.4
p.A281_Q289delFs
c.843_865del23
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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."