Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.F193L

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
1 paper
NM_003193.5
p.F193L
c.579T>A
Surrounding Variants
1 paper
NM_003193.5
p.F193L
c.579T>G
2 papers
NM_003193.5
p.P194L
c.581C>T
1 paper
NM_003193.5
p.F193L
c.577T>C
1 paper
NM_003193.5
p.V205A
c.614T>C
1 paper
NM_003193.5
p.L209*
c.626T>A
1 paper
NM_003193.5
p.L209*
c.626T>G
1 paper
NM_003193.5
p.S187Splc
c.560+5G>A
1 paper
NM_003193.5
p.V221L
c.661G>C
1 paper
NM_003193.5
p.V221L
c.661G>T
1 paper
NM_003193.5
p.V221delFs
c.663delG
2 papers
NM_003193.5
p.R223W
c.667C>T
1 paper
NM_003193.5
p.V186G
c.557T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."