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

6 papers

NM_005993.5

p.M387R

c.1160T>G

Surrounding Variants

2 papers

NM_005993.5

p.I384_L391delFs

c.1150_1171del22

1 paper

NM_005993.5

p.R393_A394insGTA

c.1177_1181ins9

6 papers

NM_005993.5

p.R377Q

c.1130G>A

6 papers

NM_005993.5

p.T374M

c.1121C>T

3 papers

NM_005993.5

p.G357R

c.1069G>A

3 papers

NM_005993.5

p.G357R

c.1069G>C

2 papers

NM_005993.5

p.E356D

c.1068G>C

2 papers

NM_005993.5

p.E356D

c.1068G>T

2 papers

NM_005993.5

p.R323*

c.967C>T

1 paper

NM_005993.5

p.S408S

c.1224T>C

1 paper

NM_005993.5

p.E411E

c.1233G>A

1 paper

NM_005993.5

p.G418fs

c.1252_1253fs