Varaico: Literature-Extracted Genetic Variants

Gene:LONRF2
Variant:p.A201E

LONRF2

60 papers

Pfam Domains

TPR_16aa 27–92UCSCTetratricopeptide repeat
TPR_16aa 202–263UCSCTetratricopeptide repeat
zf-C3HC4_2aa 448–486UCSCZinc finger, C3HC4 type (RING finger)
LON_substr_bdgaa 537–734UCSCATP-dependent protease La (LON) substrate-binding domain

Gene Aliases

HGNC Name

LON peptidase N-terminal domain and ring finger 2

HGNC Alias Symbols

FLJ45273; RNF192

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198461.4
p.A201E
c.602C>A
Surrounding Variants
1 paper
NM_198461.4
p.A193T
c.577G>A
1 paper
NM_198461.4
p.V167M
c.499G>A
1 paper
NM_198461.4
p.K164E
c.490A>G
1 paper
NM_198461.4
p.L141fs
c.421_422fs
1 paper
NM_198461.4
p.L141insFs
c.421_422insG
1 paper
NM_198461.4
p.P134S
c.400C>T
2 papers
NM_198461.4
p.A131T
c.391G>A
1 paper
NM_198461.4
p.E121*
c.361G>T
3 papers
NM_198461.4
p.D110E
c.330C>G
3 papers
NM_198461.4
p.D110E
c.330C>A
1 paper
NM_198461.4
p.R104C
c.310C>T
1 paper
NM_198461.4
p.L98M
c.292C>A
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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."