Varaico: Literature-Extracted Genetic Variants

Gene:TBCA
Variant:p.K52*

TBCA

25 papers

RefSeq Summary

The product of this gene 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 ...

Pfam Domains

TBCAaa 4–101UCSCTubulin binding cofactor A

Gene Aliases

HGNC Name

tubulin folding cofactor A

HGNC Previous Name

tubulin-specific chaperone a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004607.3
p.K52*
c.154A>T
Surrounding Variants
2 papers
NM_004607.3
p.E38V
c.113A>T
1 paper
NM_004607.3
p.V24A
c.71T>C
1 paper
NM_004607.3
p.V20_V24delFs
c.58_70del13
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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."