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.S718*

c.2153C>G

Surrounding Variants

1 paper

NM_005993.5

p.S718*

c.2153C>A

1 paper

NM_005993.5

p.D701Y

c.2101G>T

1 paper

NM_005993.5

p.I700delFs

c.2100delT

1 paper

NM_005993.5

p.E685*

c.2053G>T

1 paper

NM_005993.5

p.I684T

c.2051T>C

2 papers

NM_005993.5

p.L683_I684insFs

c.2048_2052dup5

1 paper

NM_005993.5

p.M742V

c.2224A>G

6 papers

NM_005993.5

p.Y760*

c.2280C>A

3 papers

NM_005993.5

p.Y760*

c.2280C>G

1 paper

NM_005993.5

p.E769del1

c.2305_2306delGAG

7 papers

NM_005993.5

p.R772C

c.2314C>T

2 papers

NM_005993.5

p.S776L

c.2327C>T