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.A626S

c.1876G>T

Surrounding Variants

5 papers

NM_005993.5

p.A626T

c.1876G>A

1 paper

NM_005993.5

p.A631T

c.1891G>A

1 paper

NM_005993.5

p.M617I

c.1851G>A

1 paper

NM_005993.5

p.M617I

c.1851G>C

1 paper

NM_005993.5

p.M617I

c.1851G>T

2 papers

NM_005993.5

p.M617T

c.1850T>C

3 papers

NM_005993.5

p.R641T

c.1922G>C

1 paper

NM_005993.5

p.M609R

c.1826T>G

3 papers

NM_005993.5

p.P604S

c.1810C>T

1 paper

NM_005993.5

p.V602Splc

c.1805-17G>A

1 paper

NM_005993.5

p.I658insFs

c.1974dupT

1 paper

NM_005993.5

p.A599T

c.1795G>A