Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.L181R

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.L181R
c.542T>G
Surrounding Variants
1 paper
NM_001287802.2
p.R66_H67del2
c.196_200del6
1 paper
NM_003193.5
p.V186G
c.557T>G
1 paper
NM_003193.5
p.S187Splc
c.560+5G>A
1 paper
NM_003193.5
p.V171E
c.512T>A
1 paper
NM_003193.5
p.S167S
c.501A>G
1 paper
NM_001287802.2
p.L52_D56del0
c.155_166del12
1 paper
NM_003193.5
p.K162_S166del0
c.484_498del15
2 papers
NM_003193.5
p.K157E
c.469A>G
8 papers
NM_003193.5
p.I155N
c.464T>A
10 papers
NM_003193.5
p.I155_S166del12
c.463_497del36
1 paper
NM_003193.5
p.F193L
c.577T>C
1 paper
NM_003193.5
p.F193L
c.579T>A
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