Varaico: Literature-Extracted Genetic Variants

Gene:LONRF2
Variant:p.S721L

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.S721L
c.2162C>T
Surrounding Variants
1 paper
NM_198461.4
p.R725W
c.2173C>T
1 paper
NM_198461.4
p.R710C
c.2128C>T
1 paper
NM_198461.4
p.P707A
c.2119C>G
3 papers
NM_198461.4
p.V705M
c.2113G>A
1 paper
NM_198461.4
p.M740I
c.2220G>T
1 paper
NM_198461.4
p.M740I
c.2220G>C
1 paper
NM_198461.4
p.M740I
c.2220G>A
1 paper
NM_198461.4
p.R743W
c.2227C>T
1 paper
NM_198461.4
p.R743Q
c.2228G>A
1 paper
NM_198461.4
p.*755S
c.2264G>C
1 paper
NM_198461.4
p.E686D
c.2058A>T
1 paper
NM_198461.4
p.E686D
c.2058A>C
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