Varaico: Literature-Extracted Genetic Variants

Gene:TBCE
Variant:p.V371V

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_001287802.2
p.V371V
c.1113T>A
Surrounding Variants
1 paper
NM_003193.5
p.L481P
c.1442T>C
3 papers
NM_003193.5
p.L489I
c.1465C>A
1 paper
NM_003193.5
p.Y493H
c.1477T>C
1 paper
NM_003193.5
p.M469T
c.1406T>C
2 papers
NM_003193.5
p.S511P
c.1531T>C
1 paper
NM_003193.5
p.Q513*
c.1537C>T
1 paper
NM_003193.5
p.N519S
c.1556A>G
1 paper
NM_003193.5
p.L524V
c.1570T>G
3 papers
NM_003193.5
p.R526Q
c.1577G>A
2 papers
NM_003193.5
p.P466L
c.1397C>T
1 paper
NM_003193.5
p.P453L
c.1358C>T
1 paper
NM_003193.5
p.L446V
c.1336C>G
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