Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.G34Splc

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
5 papers
NM_003193.5
p.G34Splc
c.100+1G>A
Surrounding Variants
1 paper
NM_003193.5
p.G34A
c.101G>C
1 paper
NM_003193.5
p.G34V
c.101G>T
1 paper
NM_003193.5
p.A33T
c.97G>A
1 paper
NM_003193.5
p.P30L
c.89C>T
1 paper
NM_003193.5
p.V29insFs
c.86dupT
1 paper
NM_003193.5
p.A26T
c.76G>A
2 papers
NM_003193.5
p.V23fs
c.67_68fs
1 paper
NM_003193.5
p.T22delFs
c.66delA
3 papers
NM_003193.5
p.T22_V23delFs
c.66_67delAG
1 paper
NM_003193.5
p.N17Y
c.49A>T
1 paper
NM_003193.5
p.N17_G18delFs
c.51_54del4
1 paper
NM_003193.5
p.L5F
c.15G>C
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