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.R790Q

c.2369G>A

Surrounding Variants

2 papers

NM_005993.5

p.S776L

c.2327C>T

7 papers

NM_005993.5

p.R772C

c.2314C>T

1 paper

NM_005993.5

p.E769del1

c.2305_2306delGAG

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.M742V

c.2224A>G

1 paper

NM_005993.5

p.Q793_V794Splc

c.2380-1G>A

1 paper

NM_005993.5

p.R799T

c.2396G>C

3 papers

NM_005993.5

p.E807K

c.2419G>A

1 paper

NM_005993.5

p.E813_R816del4

c.2437_2447del12

1 paper

NM_005993.5

p.G818D

c.2453G>A

2 papers

NM_005993.5

p.A821V

c.2462C>T