Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.Y292_T293insA

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.Y292_T293insA
c.874_878ins3
Surrounding Variants
1 paper
NM_003192.3
p.W294*
c.881G>A
1 paper
NM_003192.3
p.W294insFs
c.882dupG
1 paper
NM_003192.3
p.E282G
c.845A>G
1 paper
NM_003192.3
p.A279T
c.835G>A
1 paper
NM_003192.3
p.F272_R278del7
c.814_833del21
1 paper
NM_003192.3
p.F272_R278delFs
c.815_833del19
1 paper
NM_003192.3
p.S306F
c.917C>T
1 paper
NM_003192.3
p.T276I
c.827C>T
1 paper
NM_003192.3
p.D302_G307del6
c.904_920del18
1 paper
NM_003192.3
p.D309insFs
c.926_927insAG
1 paper
NM_003192.3
p.R310insFs
c.929_930insT
1 paper
NM_003192.3
p.T269I
c.806C>T
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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."