Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.H84Y

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
15 papers
NM_170784.3
p.H84Y
c.250C>T
Surrounding Variants
1 paper
NM_170784.3
p.H84fs
c.250_251fs
1 paper
NM_170784.3
p.H84delFs
c.251_252delAT
1 paper
NM_170784.3
p.S80insFs
c.239_240insC
1 paper
NM_170784.3
p.F88L
c.262T>C
1 paper
NM_170784.3
p.F88L
c.264C>G
1 paper
NM_170784.3
p.F88L
c.264C>A
1 paper
NM_170784.3
p.D90G
c.269A>G
3 papers
NM_170784.3
p.C91fs
c.271_272fs
2 papers
NM_170784.3
p.C91insFs
c.271dupT
1 paper
NM_170784.3
p.I76T
c.227T>C
2 papers
NM_170784.3
p.F94L
c.280T>C
1 paper
NM_170784.3
p.L74L
c.220T>C
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