Varaico: Literature-Extracted Genetic Variants

Gene:LMF1
Variant:p.S548R

LMF1

169 papers

Pfam Domains

LMF1aa 1–113UCSCLipase maturation factor
LMF1_Caa 185–328UCSCLipase maturation factor C-terminal domain

Gene Aliases

HGNC Name

lipase maturation factor 1

HGNC Previous Symbols

C16orf26; TMEM112

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022773.4
p.S548R
c.1644C>G
Surrounding Variants
2 papers
NM_022773.4
p.S548R
c.1644C>A
2 papers
NM_022773.4
p.S548R
c.1642A>C
1 paper
NM_022773.4
p.P546P
c.1638G>A
3 papers
NM_022773.4
p.L552R
c.1655T>G
1 paper
NM_022773.4
p.F544_P545ins5
c.1630_1634ins15
1 paper
NM_022773.4
p.Y543fs
c.1627_1628fs
2 papers
NM_022773.4
p.R537_A542insFs
c.1610_1626dup17
1 paper
NM_022773.4
p.Y543fs
c.1627_1628fs
1 paper
NM_022773.4
p.A542_Y543insFs
c.1626_1627ins8
6 papers
NM_022773.4
p.G541R
c.1621G>C
6 papers
NM_022773.4
p.G541R
c.1621G>A
1 paper
NM_022773.4
p.K538N
c.1614G>T
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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."