Varaico: Literature-Extracted Genetic Variants

Gene:TSR3
Variant:p.E301K

TSR3

25 papers

Pfam Domains

Fer4_RLIaa 58–92UCSCPossible Fer4-like domain in RNase L inhibitor, RLI
Ribo_biogen_Caa 96–222UCSCRibosome biogenesis protein, C-terminal

Gene Aliases

HGNC Name

TSR3 ribosome maturation factor

HGNC Previous Symbol

C16orf42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001410.3
p.E301K
c.901G>A
Surrounding Variants
1 paper
NM_001001410.3
p.A294delFs
c.880delC
1 paper
NM_001001410.3
p.A294fs
c.880_881fs
1 paper
NM_001001410.3
p.R311I
c.932G>T
1 paper
NM_001001410.3
p.R276H
c.827G>A
1 paper
NM_001001410.3
p.E268Q
c.802G>C
1 paper
NM_001001410.3
p.P258fs
c.772_773fs
1 paper
NM_001001410.3
p.P258S
c.772C>T
2 papers
NM_001001410.3
p.E244K
c.730G>A
1 paper
NM_001001410.3
p.P236fs
c.706_707fs
1 paper
NM_001001410.3
p.D235insFs
c.705dupT
1 paper
NM_001001410.3
p.Q230*
c.688C>T
1 paper
NM_001001410.3
p.R199C
c.595C>T
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