Varaico: Literature-Extracted Genetic Variants

Gene:TBCB
Variant:p.L241*

TBCB

33 papers

Pfam Domains

Ubiquitin_2aa 10–94UCSCUbiquitin-like domain
CAP_GLYaa 161–229UCSCCAP-Gly domain

Gene Aliases

HGNC Name

tubulin folding cofactor B

HGNC Previous Symbol

CKAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001281.3
p.L241*
c.722T>A
Surrounding Variants
1 paper
NM_001281.3
p.D242E
c.726C>G
1 paper
NM_001281.3
p.*245G
c.733T>G
1 paper
NM_001281.3
p.*245S
c.734G>C
1 paper
NM_001281.3
p.E236*
c.706G>T
2 papers
NM_001281.3
p.P235L
c.704C>T
1 paper
NM_001281.3
p.V231V
c.693G>A
1 paper
NM_001281.3
p.V231G
c.692T>G
1 paper
NM_001281.3
p.A227V
c.680C>T
1 paper
NM_001281.3
p.C216delFs
c.647delG
1 paper
NM_001281.3
p.R212C
c.634C>T
1 paper
NM_001281.3
p.N204insFs
c.612dupT
1 paper
NM_001281.3
p.K203insFs
c.607_608insG
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