Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.L123F

MKKS

302 papers

RefSeq Summary

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in c...

Pfam Domains

Cpn60_TCP1aa 29–570UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

MKKS centrosomal shuttling protein

HGNC Previous Symbol

BBS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_170784.3
p.L123F
c.367C>T
Surrounding Variants
1 paper
NM_170784.3
p.H122L
c.365A>T
1 paper
NM_170784.3
p.L126I
c.376C>A
1 paper
NM_170784.3
p.L119insFs
c.355_356ins13
1 paper
NM_170784.3
p.I117V
c.349A>G
1 paper
NM_170784.3
p.L131delFs
c.391delG
1 paper
NM_170784.3
p.T112A
c.334A>G
1 paper
NM_170784.3
p.V106_L111del6
c.316_332del18
1 paper
NM_170784.3
p.G110R
c.328G>C
1 paper
NM_170784.3
p.R139*
c.415C>T
1 paper
NM_170784.3
p.R139Q
c.416G>A
1 paper
NM_170784.3
p.R139R
c.417A>C
1 paper
NM_170784.3
p.P141R
c.422C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."