Varaico: Literature-Extracted Genetic Variants

Gene:FBXO5
Variant:p.C401S

FBXO5

38 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 the ubiquiti...

Pfam Domains

F-boxaa 256–292UCSCF-box domain
IBR_1aa 373–424UCSCIBR domain

Gene Aliases

HGNC Name

F-box protein 5

HGNC Alias Symbols

FBX5; EMI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012177.5
p.C401S
c.1201T>A
Surrounding Variants
2 papers
NM_012177.5
p.C401S
c.1202G>C
2 papers
NM_012177.5
p.R398*
c.1192C>T
1 paper
NM_012177.5
p.D388A
c.1163A>C
1 paper
NM_012177.5
p.P384A
c.1150C>G
1 paper
NM_012177.5
p.L424R
c.1271T>G
1 paper
NM_012177.5
p.K438K
c.1314G>A
1 paper
NM_012177.5
p.T355P
c.1063A>C
1 paper
NM_012177.5
p.G349_D350insFs
c.1046_1049dup4
1 paper
NM_012177.5
p.S346S
c.1038C>A
1 paper
NM_012177.5
p.T343S
c.1028C>G
1 paper
NM_012177.5
p.T343S
c.1027A>T
1 paper
NM_012177.5
p.Q342E
c.1024C>G
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