Varaico: Literature-Extracted Genetic Variants

BTRC

107 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

Beta-TrCP_Daa 139–177UCSCD domain of beta-TrCP

F-box-likeaa 190–231UCSCF-box-like

WD40aa 293–329UCSCWD domain, G-beta repeat

WD40aa 333–369UCSCWD domain, G-beta repeat

WD40aa 373–409UCSCWD domain, G-beta repeat

WD40aa 416–452UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

beta-transducin repeat containing E3 ubiquitin protein ligase

HGNC Alias Symbols

betaTrCP; FBXW1A; Fwd1; beta-TrCP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 71 variants

3 papers

NM_033637.4

p.Q78_T79Splc

c.234+1G>A

3 papers

NM_033637.4

p.A99V

c.296C>T

3 papers

NM_033637.4

p.C206Y

c.617G>A

3 papers

NM_033637.4

p.G260E

c.779G>A

3 papers

NM_033637.4

p.H342Y

c.1024C>T

3 papers

NM_033637.4

p.H425Y

c.1273C>T

3 papers

NM_033637.4

p.A543S

c.1627G>T

2 papers

NM_033637.4

p.L95S

c.284T>C

2 papers

NM_003939.5

p.P228P

c.684C>T

2 papers

NM_033637.4

p.T414A

c.1240A>G

2 papers

NM_033637.4

p.V530L

c.1588G>T

1 paper

NM_033637.4

p.E5Q

c.13G>C