Varaico: Literature-Extracted Genetic Variants

Gene:TBCEL
Variant:p.G123G

TBCEL

24 papers

Pfam Domains

LRR_9aa 180–308UCSCLeucine-rich repeat
Ubiquitin_2aa 344–424UCSCUbiquitin-like domain

Gene Aliases

HGNC Name

tubulin folding cofactor E like

HGNC Previous Symbol

LRRC35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001363644.2
p.G123G
c.369G>T
Surrounding Variants
1 paper
NM_001363644.2
p.T120T
c.360A>G
1 paper
NM_001363644.2
p.R129C
c.385C>T
1 paper
NM_001363644.2
p.L117fs
c.349_350fs
1 paper
NM_001363644.2
p.V116insFs
c.347dupT
1 paper
NM_001363644.2
p.M145I
c.435G>A
1 paper
NM_001363644.2
p.M145I
c.435G>C
1 paper
NM_001363644.2
p.M145I
c.435G>T
1 paper
NM_001363644.2
p.I146L
c.436A>C
1 paper
NM_001363644.2
p.I146L
c.436A>T
1 paper
NM_001363644.2
p.P100insFs
c.299dupC
1 paper
NM_001363644.2
p.F157L
c.469T>C
1 paper
NM_001363644.2
p.F157L
c.471C>A
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