Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.L309*

TBCE

203 papers

RefSeq Summary

Cofactor E 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

CAP_GLYaa 10–75UCSCCAP-Gly domain
Ubiquitin_2aa 446–526UCSCUbiquitin-like domain

Gene Aliases

HGNC Name

tubulin folding cofactor E

HGNC Previous Symbols

KCS; HRD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003193.5
p.L309*
c.926T>A
Surrounding Variants
1 paper
NM_003193.5
p.S308T
c.922T>A
2 papers
NM_003193.5
p.S308delFs
c.924delC
2 papers
NM_003193.5
p.F306V
c.916T>G
1 paper
NM_003193.5
p.K302E
c.904A>G
2 papers
NM_003193.5
p.Q318*
c.952C>T
1 paper
NM_003193.5
p.G300Splc
c.899-41A>G
1 paper
NM_001287802.2
p.L171H
c.512T>A
1 paper
NM_003193.5
p.E280K
c.838G>A
1 paper
NM_003193.5
p.E280delFs
c.838delG
1 paper
NM_003193.5
p.Q269*
c.805C>T
1 paper
NM_003193.5
p.I265T
c.794T>C
1 paper
NM_003193.5
p.E329K
c.985G>A
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