Varaico: Literature-Extracted Genetic Variants

Gene:LMF2
Variant:p.R249H

LMF2

42 papers

Pfam Domains

LMF1aa 122–293UCSCLipase maturation factor
LMF1_Caa 448–586UCSCLipase maturation factor C-terminal domain

Gene Aliases

HGNC Name

lipase maturation factor 2

HGNC Previous Symbols

TMEM153; TMEM112B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033200.3
p.R249H
c.746G>A
Surrounding Variants
1 paper
NM_033200.3
p.R251C
c.751C>T
1 paper
NM_033200.3
p.Q258*
c.772C>T
1 paper
NM_033200.3
p.V229M
c.685G>A
1 paper
NM_033200.3
p.E205K
c.613G>A
1 paper
NM_033200.3
p.Q258_V259Splc
c.775-9C>T
1 paper
NM_033200.3
p.V185F
c.553G>T
1 paper
NM_033200.3
p.S182insFs
c.544_545ins5
1 paper
NM_033200.3
p.T268T
c.804C>T
1 paper
NM_033200.3
p.N272N
c.816C>T
1 paper
NM_033200.3
p.F274L
c.820T>C
1 paper
NM_033200.3
p.F274L
c.822C>G
1 paper
NM_033200.3
p.F274L
c.822C>A
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