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

Selected Variant

1 paper

NM_033637.4

p.S55T

c.163T>A

Surrounding Variants

1 paper

NM_033637.4

p.S54T

c.160T>A

1 paper

NM_033637.4

p.E64A

c.191A>C

1 paper

NM_033637.4

p.E72K

c.214G>A

1 paper

NM_033637.4

p.K73R

c.218A>G

3 papers

NM_033637.4

p.Q78_T79Splc

c.234+1G>A