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.H941Y

c.2821C>T

Surrounding Variants

6 papers

NM_005993.5

p.R942Q

c.2825G>A

1 paper

NM_005993.5

p.G943V

c.2828G>T

8 papers

NM_005993.5

p.P937R

c.2810C>G

1 paper

NM_005993.5

p.F931insFs

c.2792_2793insG

1 paper

NM_005993.5

p.F931fs

c.2791_2792fs

1 paper

NM_005993.5

p.H930R

c.2789A>G

4 papers

NM_005993.5

p.R951Splc

c.2852+3A>G

6 papers

NM_005993.5

p.A921T

c.2761G>A

1 paper

NM_005993.5

p.R916C

c.2746C>T

1 paper

NM_005993.5

p.R901C

c.2701C>T

1 paper

NM_005993.5

p.V954V

c.2862G>A

1 paper

NM_005993.5

p.A955T

c.2863G>A