Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.G11S

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.G11S
c.31G>A
Surrounding Variants
1 paper
NM_005993.5
p.G10G
c.30C>T
2 papers
NM_005993.5
p.G10C
c.28G>T
1 paper
NM_005993.5
p.S4R
c.12C>G
1 paper
NM_005993.5
p.A2T
c.4G>A
1 paper
NM_005993.5
p.M1L
c.1A>C
1 paper
NM_005993.5
p.M1L
c.1A>T
1 paper
NM_005993.5
p.A38P
c.112G>C
1 paper
NM_005993.5
p.V55A
c.164T>C
1 paper
NM_005993.5
p.V62I
c.184G>A
3 papers
NM_005993.5
p.Q68*
c.202C>T
4 papers
NM_005993.5
p.Q70L
c.209A>T
8 papers
NM_005993.5
p.H77R
c.230A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."