Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.L261P

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.L261P
c.782T>C
Surrounding Variants
1 paper
NM_003192.3
p.T266_K267delFs
c.797_801del5
1 paper
NM_003192.3
p.T269I
c.806C>T
1 paper
NM_003192.3
p.C252W
c.756C>G
1 paper
NM_003192.3
p.C252S
c.755G>C
1 paper
NM_003192.3
p.E247D
c.741G>T
1 paper
NM_003192.3
p.E247*
c.739G>T
1 paper
NM_003192.3
p.T276I
c.827C>T
1 paper
NM_003192.3
p.F272_R278delFs
c.815_833del19
1 paper
NM_003192.3
p.A279T
c.835G>A
1 paper
NM_003192.3
p.F272_R278del7
c.814_833del21
1 paper
NM_003192.3
p.S241delFs
c.723delA
1 paper
NM_003192.3
p.S241F
c.722C>T
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