Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.D274E

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.D274E
c.822C>G
Surrounding Variants
8 papers
NM_170784.3
p.L277P
c.830T>C
1 paper
NM_170784.3
p.A271_V272insT
c.811_815ins3
5 papers
NM_170784.3
p.L279delFs
c.837delT
2 papers
NM_170784.3
p.G280fs
c.838_839fs
3 papers
NM_170784.3
p.L268R
c.803T>G
1 paper
NM_170784.3
p.L268F
c.802C>T
1 paper
NM_170784.3
p.Q282*
c.844C>T
1 paper
NM_170784.3
p.V266Fs
c.798delinsTTFs
1 paper
NM_170784.3
p.V266delins
c.797_798delinsTT
3 papers
NM_170784.3
p.Y264*
c.792T>G
3 papers
NM_170784.3
p.Y264*
c.792T>A
6 papers
NM_170784.3
p.T259delFs
c.775delT
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