Varaico: Literature-Extracted Genetic Variants

Gene:LONRF1
Variant:p.F695L

LONRF1

36 papers

Pfam Domains

zf-C3HC4_4aa 123–154UCSCzinc finger of C3HC4-type, RING
zf-C3HC4_2aa 478–516UCSCZinc finger, C3HC4 type (RING finger)
LON_substr_bdgaa 567–766UCSCATP-dependent protease La (LON) substrate-binding domain

Gene Aliases

HGNC Name

LON peptidase N-terminal domain and ring finger 1

HGNC Alias Symbols

FLJ23749; RNF191

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152271.5
p.F695L
c.2085T>G
Surrounding Variants
1 paper
NM_152271.5
p.F695L
c.2085T>A
1 paper
NM_152271.5
p.F695L
c.2083T>C
1 paper
NM_152271.5
p.C692Y
c.2075G>A
1 paper
NM_152271.5
p.A691V
c.2072C>T
1 paper
NM_152271.5
p.H684Q
c.2052T>A
1 paper
NM_152271.5
p.Q708*
c.2122C>T
1 paper
NM_152271.5
p.W732R
c.2194T>C
2 papers
NM_152271.5
p.Y743H
c.2227T>C
1 paper
NM_152271.5
p.R756W
c.2266C>T
1 paper
NM_152271.5
p.G635R
c.1903G>C
1 paper
NM_152271.5
p.G635R
c.1903G>A
1 paper
NM_152271.5
p.S611T
c.1832G>C
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