Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.N342S

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.N342S
c.1025A>G
Surrounding Variants
1 paper
NM_003193.5
p.L344delFs
c.1031delT
4 papers
NM_003193.5
p.S333T
c.998G>C
1 paper
NM_003193.5
p.K330delFs
c.990delG
1 paper
NM_003193.5
p.E329K
c.985G>A
1 paper
NM_003193.5
p.I359delFs
c.1076delT
1 paper
NM_003193.5
p.C371Y
c.1112G>A
10 papers
NM_003193.5
p.C371*
c.1113T>A
1 paper
NM_003193.5
p.E372_I373Splc
c.1116+64G>A
2 papers
NM_003193.5
p.Q318*
c.952C>T
2 papers
NM_003193.5
p.L309*
c.926T>A
1 paper
NM_003193.5
p.S308T
c.922T>A
2 papers
NM_003193.5
p.S308delFs
c.924delC
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