Varaico: Literature-Extracted Genetic Variants

Gene:LONRF2
Variant:p.P11_P12del1

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.P11_P12del1
c.33_35delGGC
Surrounding Variants
1 paper
NM_198461.4
p.P12del1
c.34_35delGGG
1 paper
NM_198461.4
p.A20G
c.59C>G
3 papers
NM_198461.4
p.Q25H
c.75G>T
3 papers
NM_198461.4
p.Q25H
c.75G>C
1 paper
NM_198461.4
p.E44V
c.131A>T
1 paper
NM_198461.4
p.G83S
c.247G>A
1 paper
NM_198461.4
p.L98M
c.292C>A
1 paper
NM_198461.4
p.R104C
c.310C>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.E121*
c.361G>T
2 papers
NM_198461.4
p.A131T
c.391G>A
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