Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.Q112*

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.Q112*
c.334C>T
Surrounding Variants
1 paper
NM_003192.3
p.A116P
c.346G>C
1 paper
NM_003192.3
p.S101_V102insFs
c.303_304insT
1 paper
NM_003192.3
p.I98insFs
c.292_293insA
1 paper
NM_003192.3
p.R128H
c.383G>A
1 paper
NM_003192.3
p.L91_G93delFs
c.272_278del7
1 paper
NM_003192.3
p.P133S
c.397C>T
1 paper
NM_003192.3
p.K134R
c.401A>G
3 papers
NM_003192.3
p.E86D
c.258G>T
3 papers
NM_003192.3
p.E86D
c.258G>C
1 paper
NM_003192.3
p.E85D
c.255G>T
1 paper
NM_003192.3
p.E85D
c.255G>C
1 paper
NM_003192.3
p.K140T
c.419A>C
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