Varaico: Literature-Extracted Genetic Variants

Gene:TBCC

TBCC

132 papers

RefSeq Summary

Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role...

Pfam Domains

TBCC_Naa 27–135UCSCTubulin-specific chaperone C N-terminal domain
TBCCaa 203–321UCSCTubulin binding cofactor C

Gene Aliases

HGNC Name

tubulin folding cofactor C

HGNC Previous Name

tubulin-specific chaperone c

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
3 papers
NM_003192.3
p.E86D
c.258G>T
3 papers
NM_003192.3
p.E86D
c.258G>C
2 papers
NM_003192.3
p.R12T
c.35G>C
2 papers
NM_003192.3
p.R12S
c.36G>T
2 papers
NM_003192.3
p.R12S
c.36G>C
2 papers
NM_003192.3
p.N49I
c.146A>T
2 papers
NM_003192.3
p.V65A
c.194T>C
2 papers
NM_003192.3
p.Q112*
c.334C>T
2 papers
NM_003192.3
p.A146T
c.436G>A
2 papers
NM_003192.3
p.A146V
c.437C>T
2 papers
NM_003192.3
p.P169S
c.505C>T
2 papers
NM_003192.3
p.I335V
c.1003A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."