Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.I335V

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
2 papers
NM_003192.3
p.I335V
c.1003A>G
Surrounding Variants
1 paper
NM_003192.3
p.L336F
c.1006C>T
1 paper
NM_003192.3
p.P331L
c.992C>T
1 paper
NM_003192.3
p.P331T
c.991C>A
1 paper
NM_003192.3
p.S330F
c.989C>T
1 paper
NM_003192.3
p.R341Q
c.1022G>A
1 paper
NM_003192.3
p.W345S
c.1034G>C
1 paper
NM_003192.3
p.W323*
c.968G>A
1 paper
NM_003192.3
p.D319N
c.955G>A
1 paper
NM_003192.3
p.R310insFs
c.929_930insT
1 paper
NM_003192.3
p.D309insFs
c.926_927insAG
1 paper
NM_003192.3
p.D302_G307del6
c.904_920del18
1 paper
NM_003192.3
p.S306F
c.917C>T
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