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

3 papers

NM_005993.5

p.G555D

c.1664G>A

Surrounding Variants

6 papers

NM_005993.5

p.A554V

c.1661C>T

1 paper

NM_005993.5

p.S550S

c.1650T>C

1 paper

NM_005993.5

p.T560M

c.1679C>T

1 paper

NM_005993.5

p.P562A

c.1684C>G

4 papers

NM_005993.5

p.K571R

c.1712A>G

5 papers

NM_005993.5

p.R580Q

c.1739G>A

7 papers

NM_005993.5

p.A586V

c.1757C>T

1 paper

NM_005993.5

p.A599T

c.1795G>A

1 paper

NM_005993.5

p.S550Splc

c.1649+2336G>A

1 paper

NM_005993.5

p.V602Splc

c.1805-17G>A

3 papers

NM_005993.5

p.P604S

c.1810C>T

1 paper

NM_005993.5

p.M609R

c.1826T>G