Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.V221L

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.V221L
c.661G>T
Surrounding Variants
1 paper
NM_003193.5
p.V221L
c.661G>C
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.E232K
c.694G>A
1 paper
NM_003193.5
p.E237D
c.711G>C
1 paper
NM_003193.5
p.E237D
c.711G>T
1 paper
NM_003193.5
p.I243V
c.727A>G
1 paper
NM_003193.5
p.S244S
c.732C>T
1 paper
NM_003193.5
p.E245Fs
c.733_734delinsTFs
1 paper
NM_003193.5
p.T248R
c.743C>G
1 paper
NM_003193.5
p.L257*
c.770T>A
1 paper
NM_003193.5
p.L257*
c.770T>G
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