Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.F94L

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
2 papers
NM_170784.3
p.F94L
c.282C>A
Surrounding Variants
2 papers
NM_170784.3
p.F94L
c.282C>G
1 paper
NM_170784.3
p.F94fs
c.280_281fs
3 papers
NM_170784.3
p.F94delFs
c.281delA
2 papers
NM_170784.3
p.F94L
c.280T>C
1 paper
NM_170784.3
p.F94fs
c.280_281fs
2 papers
NM_170784.3
p.A96V
c.287C>T
2 papers
NM_170784.3
p.C91insFs
c.271dupT
3 papers
NM_170784.3
p.C91fs
c.271_272fs
6 papers
NM_170784.3
p.C99R
c.295T>C
1 paper
NM_170784.3
p.D90G
c.269A>G
1 paper
NM_170784.3
p.F88L
c.264C>G
1 paper
NM_170784.3
p.F88L
c.264C>A
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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."