Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.R208fs

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.R208fs
c.622_623fs
Surrounding Variants
1 paper
NM_170784.3
p.Q207_R208delFs
c.621_622delTT
1 paper
NM_170784.3
p.S212F
c.635C>T
1 paper
NM_170784.3
p.L200_I201delFs
c.599_603del5
1 paper
NM_170784.3
p.L200fs
c.598_599fs
1 paper
NM_170784.3
p.S199delFs
c.595_596delCT
1 paper
NM_170784.3
p.G217V
c.650G>T
1 paper
NM_170784.3
p.K198delFs
c.592_593delTT
1 paper
NM_170784.3
p.K198fs
c.592_593fs
2 papers
NM_170784.3
p.G197*
c.589G>T
1 paper
NM_170784.3
p.I220V
c.658A>G
1 paper
NM_170784.3
p.I195I
c.585T>C
1 paper
NM_170784.3
p.S223*
c.668C>G
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