Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.T224_L225del0

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.T224_L225del0
c.670_675del6
Surrounding Variants
1 paper
NM_003192.3
p.R226W
c.676C>T
1 paper
NM_003192.3
p.A230S
c.688G>T
1 paper
NM_003192.3
p.N221delFs
c.663delA
1 paper
NM_003192.3
p.S241F
c.722C>T
1 paper
NM_003192.3
p.S241delFs
c.723delA
1 paper
NM_003192.3
p.E247*
c.739G>T
1 paper
NM_003192.3
p.E247D
c.741G>T
1 paper
NM_003192.3
p.C252S
c.755G>C
1 paper
NM_003192.3
p.C252W
c.756C>G
1 paper
NM_003192.3
p.E195D
c.585G>T
1 paper
NM_003192.3
p.E195D
c.585G>C
1 paper
NM_003192.3
p.L261P
c.782T>C
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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."