Varaico: Literature-Extracted Genetic Variants

Gene:LONRF1
Variant:p.L295*

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.L295*
c.884T>A
Surrounding Variants
1 paper
NM_152271.5
p.L295*
c.884T>G
1 paper
NM_152271.5
p.D291V
c.872A>T
2 papers
NM_152271.5
p.I265L
c.793A>T
1 paper
NM_152271.5
p.I265L
c.793A>C
1 paper
NM_152271.5
p.Q259*
c.775C>T
1 paper
NM_152271.5
p.Y250F
c.749A>T
1 paper
NM_152271.5
p.M358T
c.1073T>C
1 paper
NM_152271.5
p.Q362R
c.1085A>G
1 paper
NM_152271.5
p.L408*
c.1223T>G
1 paper
NM_152271.5
p.L408*
c.1223T>A
1 paper
NM_152271.5
p.L408delFs
c.1223delA
1 paper
NM_152271.5
p.Q420*
c.1258C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."