Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.Q34L

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
Selected Variant
1 paper
NM_003192.3
p.Q34L
c.101A>T
Surrounding Variants
1 paper
NM_003192.3
p.R32H
c.95G>A
1 paper
NM_003192.3
p.Q37L
c.110A>T
1 paper
NM_003192.3
p.R28W
c.82C>T
1 paper
NM_003192.3
p.P26_E27insFs
c.78_79insCA
1 paper
NM_003192.3
p.R42G
c.124A>G
2 papers
NM_003192.3
p.N49I
c.146A>T
1 paper
NM_003192.3
p.V52I
c.154G>A
1 paper
NM_003192.3
p.G14V
c.41G>T
1 paper
NM_003192.3
p.G14R
c.40G>A
2 papers
NM_003192.3
p.R12S
c.36G>T
2 papers
NM_003192.3
p.R12S
c.36G>C
1 paper
NM_003192.3
p.R12delins
c.35_36delinsTA
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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."