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

7 papers

NM_005993.5

p.Q521_G522Splc

c.1564-12C>G

Surrounding Variants

3 papers

NM_005993.5

p.G522fs

c.1564_1565fs

1 paper

NM_005993.5

p.P525S

c.1573C>T

2 papers

NM_005993.5

p.I530T

c.1589T>C

1 paper

NM_005993.5

p.N544S

c.1631A>G

1 paper

NM_005993.5

p.I549insFs

c.1645dupA

1 paper

NM_005993.5

p.S550Splc

c.1649+2336G>A

1 paper

NM_005993.5

p.Q521*

c.1561C>T

1 paper

NM_005993.5

p.S550S

c.1650T>C

6 papers

NM_005993.5

p.A554V

c.1661C>T

3 papers

NM_005993.5

p.G555D

c.1664G>A

1 paper

NM_005993.5

p.T560M

c.1679C>T

1 paper

NM_005993.5

p.P562A

c.1684C>G