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

8 papers

NM_005993.5

p.N1033K

c.3099C>G

Surrounding Variants

7 papers

NM_005993.5

p.N1033K

c.3099C>A

1 paper

NM_005993.5

p.R1038delFs

c.3112_3113delAG

1 paper

NM_005993.5

p.P1016L

c.3047C>T

2 papers

NM_005993.5

p.E1007A

c.3020A>C

1 paper

NM_005993.5

p.T997_I998Splc

c.2991+147C>G

5 papers

NM_005993.5

p.T994M

c.2981C>T

4 papers

NM_005993.5

p.R979C

c.2935C>T

1 paper

NM_005993.5

p.S956fs

c.2866_2867fs

1 paper

NM_005993.5

p.A955T

c.2863G>A

1 paper

NM_005993.5

p.V954V

c.2862G>A

4 papers

NM_005993.5

p.R951Splc

c.2852+3A>G

1 paper

NM_005993.5

p.G943V

c.2828G>T