Varaico: Literature-Extracted Genetic Variants

Gene:FBXL6
Variant:p.V211L

FBXL6

36 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subun...

Pfam Domains

F-box-likeaa 113–163UCSCF-box-like
LRR_6aa 382–405UCSCLeucine Rich repeat
LRR_6aa 382–405UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 6

HGNC Alias Symbol

FBL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012162.4
p.V211L
c.631G>C
Surrounding Variants
1 paper
NM_012162.4
p.P190fs
c.568_569fs
1 paper
NM_012162.4
p.P220L
c.659C>T
1 paper
NM_012162.4
p.R221L
c.662G>T
1 paper
NM_012162.4
p.D236D
c.708C>T
1 paper
NM_012162.4
p.A244P
c.730G>C
1 paper
NM_012162.4
p.L251L
c.753G>A
1 paper
NM_012162.4
p.M257_V258Splc
c.772-5C>T
2 papers
NM_012162.4
p.G271A
c.812G>C
1 paper
NM_012162.4
p.P133_M134insFs
c.399_400insC
1 paper
NM_012162.4
p.L289P
c.866T>C
1 paper
NM_012162.4
p.E118V
c.353A>T
1 paper
NM_012162.4
p.G112fs
c.334_335fs
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