Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.K140T

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.K140T
c.419A>C
Surrounding Variants
2 papers
NM_003192.3
p.A146T
c.436G>A
2 papers
NM_003192.3
p.A146V
c.437C>T
1 paper
NM_003192.3
p.A146delFs
c.436delC
1 paper
NM_003192.3
p.K134R
c.401A>G
1 paper
NM_003192.3
p.P133S
c.397C>T
1 paper
NM_003192.3
p.V152G
c.455T>G
1 paper
NM_003192.3
p.R128H
c.383G>A
1 paper
NM_003192.3
p.D153V
c.458A>T
1 paper
NM_003192.3
p.I158F
c.472A>T
1 paper
NM_003192.3
p.P159S
c.475C>T
1 paper
NM_003192.3
p.A116P
c.346G>C
2 papers
NM_003192.3
p.Q112*
c.334C>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."