Varaico: Literature-Extracted Genetic Variants

Gene:TBCC
Variant:p.N49I

TBCC

132 papers

RefSeq Summary

Cofactor C 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

TBCC_Naa 27–135UCSCTubulin-specific chaperone C N-terminal domain
TBCCaa 203–321UCSCTubulin binding cofactor C

Gene Aliases

HGNC Name

tubulin folding cofactor C

HGNC Previous Name

tubulin-specific chaperone c

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003192.3
p.N49I
c.146A>T
Surrounding Variants
1 paper
NM_003192.3
p.V52I
c.154G>A
1 paper
NM_003192.3
p.R42G
c.124A>G
1 paper
NM_003192.3
p.E53_H58del0
c.159_173del15
1 paper
NM_003192.3
p.F60fs
c.178_179fs
1 paper
NM_003192.3
p.V61I
c.181G>A
1 paper
NM_003192.3
p.V61D
c.182T>A
1 paper
NM_003192.3
p.Q37L
c.110A>T
1 paper
NM_003192.3
p.A62P
c.184G>C
1 paper
NM_003192.3
p.S57_A62del0
c.170_184del15
1 paper
NM_003192.3
p.H58_A62del0
c.172_186del15
1 paper
NM_003192.3
p.Q34L
c.101A>T
2 papers
NM_003192.3
p.V65A
c.194T>C
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