Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.A475V

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
2 papers
NM_005993.5
p.A475V
c.1424C>T
Surrounding Variants
9 papers
NM_005993.5
p.A475T
c.1423G>A
1 paper
NM_005993.5
p.A477A
c.1431C>T
1 paper
NM_005993.5
p.W472*
c.1416G>A
1 paper
NM_005993.5
p.Y478C
c.1433A>G
2 papers
NM_005993.5
p.W472L
c.1415G>T
2 papers
NM_005993.5
p.A467T
c.1399G>A
1 paper
NM_005993.5
p.S491L
c.1472C>T
1 paper
NM_005993.5
p.S491S
c.1473G>C
1 paper
NM_005993.5
p.C457C
c.1371C>T
1 paper
NM_005993.5
p.A456V
c.1367C>T
7 papers
NM_005993.5
p.A447V
c.1340C>T
1 paper
NM_005993.5
p.A442A
c.1326C>T
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