Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.D98fs

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.D98fs
c.292_293fs
Surrounding Variants
1 paper
NM_003193.5
p.D98N
c.292G>A
1 paper
NM_003193.5
p.D98delFs
c.294delT
1 paper
NM_003193.5
p.G94E
c.281G>A
1 paper
NM_003193.5
p.V111G
c.332T>G
1 paper
NM_003193.5
p.V75L
c.223G>C
3 papers
NM_003193.5
p.P72S
c.214C>T
1 paper
NM_003193.5
p.I70fs
c.208_209fs
1 paper
NM_003193.5
p.T65K
c.194C>A
1 paper
NM_003193.5
p.T65R
c.194C>G
2 papers
NM_003193.5
p.G66_G67del2
c.196_200del6
1 paper
NM_003193.5
p.P64P
c.192G>A
1 paper
NM_003193.5
p.P64L
c.191C>T
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