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.R1173H

c.3518G>A

Surrounding Variants

6 papers

NM_005993.5

p.Q1184*

c.3550C>T

1 paper

NM_005993.5

p.L1185P

c.3554T>C

1 paper

NM_005993.5

p.D1149D

c.3447C>T

14 papers

NM_005993.5

p.P1122L

c.3365C>T

5 papers

NM_005993.5

p.F1121V

c.3361T>G

5 papers

NM_005993.5

p.V1105M

c.3313G>A

1 paper

NM_005993.5

p.E1097G

c.3290A>G

1 paper

NM_005993.5

p.I1092I

c.3276C>T

1 paper

NM_005993.5

p.H1065R

c.3194A>G

6 papers

NM_005993.5

p.D1064Splc

c.3192-2A>G

1 paper

NM_005993.5

p.F1059delins

c.3175_3176delinsTG

1 paper

NM_005993.5

p.T1046M

c.3137C>T