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.T455fs

c.1363_1364fs

Surrounding Variants

1 paper

NM_033637.4

p.N452_T453insFs

c.1356_1357ins4

1 paper

NM_033637.4

p.G482C

c.1444G>T

1 paper

NM_033637.4

p.R489Splc

c.1466+91A>G

1 paper

NM_033637.4

p.I439V

c.1315A>G

3 papers

NM_033637.4

p.H425Y

c.1273C>T

1 paper

NM_033637.4

p.G424V

c.1271G>T

2 papers

NM_033637.4

p.T414A

c.1240A>G

1 paper

NM_003939.5

p.S364Y

c.1091C>A

1 paper

NM_033637.4

p.T378A

c.1132A>G

1 paper

NM_033637.4

p.M375I

c.1125G>T

1 paper

NM_033637.4

p.G522G

c.1566G>A

1 paper

NM_033637.4

p.T364T

c.1092G>A