Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.L446V

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.L446V
c.1336C>G
Surrounding Variants
1 paper
NM_003193.5
p.T435delFs
c.1303delA
1 paper
NM_003193.5
p.P453L
c.1358C>T
2 papers
NM_003193.5
p.P466L
c.1397C>T
1 paper
NM_003193.5
p.L423L
c.1269G>A
1 paper
NM_003193.5
p.C422_L423insFs
c.1266_1267insG
1 paper
NM_003193.5
p.H415delFs
c.1245delT
1 paper
NM_003193.5
p.E410E
c.1230A>G
1 paper
NM_003193.5
p.E409G
c.1226A>G
1 paper
NM_003193.5
p.E409K
c.1225G>A
1 paper
NM_003193.5
p.A396_G397insFs
c.1188_1189insCC
1 paper
NM_003193.5
p.K394T
c.1181A>C
1 paper
NM_003193.5
p.K394R
c.1181A>G
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