Varaico: Literature-Extracted Genetic Variants

Gene:TBCCD1
Variant:p.P483delFs

TBCCD1

26 papers

Pfam Domains

TBCCaa 329–446UCSCTubulin binding cofactor C
TBCCaa 329–446UCSCTubulin binding cofactor C

Gene Aliases

HGNC Name

TBCC domain containing 1

HGNC Alias Symbol

FLJ10560

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018138.5
p.P483delFs
c.1449delG
Surrounding Variants
1 paper
NM_018138.5
p.G485fs
c.1453_1454fs
1 paper
NM_018138.5
p.T401M
c.1202C>T
1 paper
NM_018138.5
p.H398H
c.1194C>T
1 paper
NM_018138.5
p.T392fs
c.1174_1175fs
2 papers
NM_018138.5
p.R349*
c.1045C>T
1 paper
NM_018138.5
p.R349*
c.1045C>T
1 paper
NM_018138.5
p.I342R
c.1025T>G
1 paper
NM_018138.5
p.Q318H
c.954G>T
1 paper
NM_018138.5
p.Q318H
c.954G>C
1 paper
NM_018138.5
p.A282T
c.844G>A
1 paper
NM_018138.5
p.L264F
c.792G>T
1 paper
NM_018138.5
p.L264F
c.792G>C
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