Varaico: Literature-Extracted Genetic Variants

TBCD

175 papers

RefSeq Summary

Cofactor D 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

ARM_TBCDaa 64–236UCSCTubulin-specific chaperone D-like, ARM repeat

ARM_TBCD_2ndaa 292–528UCSCTubulin-specific chaperone D-like, ARM repeats

TFCD_Caa 900–1087UCSCTubulin folding cofactor D C terminal

Gene Aliases

HGNC Name

tubulin folding cofactor D

HGNC Previous Name

tubulin-specific chaperone d

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005993.5

p.A274delFs

c.820delG

Surrounding Variants

1 paper

NM_005993.5

p.R284*

c.850A>T

3 papers

NM_005993.5

p.R294W

c.880C>T

2 papers

NM_005993.5

p.R294Q

c.881G>A

1 paper

NM_005993.5

p.V298_K299insFs

c.894_895insG

1 paper

NM_005993.5

p.L300F

c.898C>T

5 papers

NM_005993.5

p.R303*

c.907C>T

1 paper

NM_005993.5

p.L304P

c.911T>C

1 paper

NM_005993.5

p.L304L

c.912G>A

1 paper

NM_005993.5

p.T307T

c.921A>T

2 papers

NM_005993.5

p.A273Splc

c.817+2T>C

1 paper

NM_005993.5

p.P271_Y272delFs

c.813_816del4

1 paper

NM_005993.5

p.R266H

c.797G>A