Varaico: Literature-Extracted Genetic Variants

Gene:LONRF2
Variant:p.H482N

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
3 papers
NM_198461.4
p.H482N
c.1444C>A
Surrounding Variants
1 paper
NM_198461.4
p.D478N
c.1432G>A
1 paper
NM_198461.4
p.E474Q
c.1420G>C
1 paper
NM_198461.4
p.S441L
c.1322C>T
5 papers
NM_198461.4
p.L426P
c.1277T>C
1 paper
NM_198461.4
p.K421_K422insG
c.1261_1265ins3
1 paper
NM_198461.4
p.A415T
c.1243G>A
1 paper
NM_198461.4
p.D412Y
c.1234G>T
1 paper
NM_198461.4
p.V407L
c.1219G>T
1 paper
NM_198461.4
p.V407L
c.1219G>C
1 paper
NM_198461.4
p.D406G
c.1217A>G
1 paper
NM_198461.4
p.A397T
c.1189G>A
1 paper
NM_198461.4
p.E381K
c.1141G>A
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