Varaico: Literature-Extracted Genetic Variants

Gene:FBXO22
Variant:p.E115*

FBXO22

44 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 23–64UCSCF-box domain
FIST_Caa 266–365UCSCFIST C domain

Gene Aliases

HGNC Name

F-box protein 22

HGNC Alias Symbols

FBX22; FISTC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_147188.3
p.E115*
c.343G>T
Surrounding Variants
1 paper
NM_147188.3
p.E93_N94Splc
c.280-99A>G
1 paper
NM_147188.3
p.T127A
c.379A>G
1 paper
NM_147188.3
p.K137R
c.410A>G
3 papers
NM_147188.3
p.G159_S162del4
c.475_485del12
1 paper
NM_147188.3
p.P165S
c.493C>T
1 paper
NM_147188.3
p.E169K
c.505G>A
1 paper
NM_147188.3
p.R53fs
c.157_158fs
2 papers
NM_147188.3
p.W52R
c.154T>A
2 papers
NM_147188.3
p.W52R
c.154T>C
3 papers
NM_147188.3
p.R53_E54delFs
c.159_162del4
1 paper
NM_147188.3
p.N25K
c.75C>A
1 paper
NM_147188.3
p.N25K
c.75C>G
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