Varaico: Literature-Extracted Genetic Variants

Gene:TEDC1
Variant:p.K195_I196Splc

TEDC1

33 papers

Pfam Domains

TEDC1aa 90–241UCSCTubulin epsilon and delta complex protein 1
TEDC1aa 289–331UCSCTubulin epsilon and delta complex protein 1
TEDC1aa 289–331UCSCTubulin epsilon and delta complex protein 1
TEDC1aa 289–331UCSCTubulin epsilon and delta complex protein 1
TEDC1aa 289–331UCSCTubulin epsilon and delta complex protein 1

Gene Aliases

HGNC Name

tubulin epsilon and delta complex 1

HGNC Previous Symbol

C14orf80

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367178.1
p.K195_I196Splc
c.586-69C>T
Surrounding Variants
1 paper
NM_001367178.1
p.L198L
c.592C>T
3 papers
NM_001367178.1
p.R201C
c.601C>T
1 paper
NM_001367178.1
p.R201H
c.602G>A
1 paper
NM_001367178.1
p.S205_D206insFs
c.615_616insT
1 paper
NM_001367178.1
p.H211R
c.632A>G
1 paper
NM_001367178.1
p.L212L
c.634C>T
1 paper
NM_001367178.1
p.L220P
c.659T>C
1 paper
NM_001367178.1
p.A191T
c.571G>A
1 paper
NM_001367178.1
p.Q189*
c.565C>T
1 paper
NM_001367178.1
p.Q181R
c.542A>G
1 paper
NM_001367178.1
p.R180C
c.538C>T
1 paper
NM_001367178.1
p.A148V
c.443C>T
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