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

1–12 of 184 variants

14 papers

NM_005993.5

p.P1122L

c.3365C>T

9 papers

NM_005993.5

p.A475T

c.1423G>A

8 papers

NM_005993.5

p.H77R

c.230A>G

8 papers

NM_005993.5

p.P937R

c.2810C>G

8 papers

NM_005993.5

p.N1033K

c.3099C>G

7 papers

NM_005993.5

p.A447V

c.1340C>T

7 papers

NM_005993.5

p.Q521_G522Splc

c.1564-12C>G

7 papers

NM_005993.5

p.A586V

c.1757C>T

7 papers

NM_005993.5

p.R772C

c.2314C>T

7 papers

NM_005993.5

p.N1033K

c.3099C>A

6 papers

NM_005993.5

p.T374M

c.1121C>T

6 papers

NM_005993.5

p.R377Q

c.1130G>A