Varaico: Literature-Extracted Genetic Variants

Gene:MKKS

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
1–12 of 254 variants
46 papers
NM_170784.3
p.A242S
c.724G>T
21 papers
NM_170784.3
p.Y37C
c.110A>G
19 papers
NM_170784.3
p.I339V
c.1015A>G
16 papers
NM_170784.3
p.R517C
c.1549C>T
15 papers
NM_170784.3
p.H84Y
c.250C>T
15 papers
NM_170784.3
p.G532V
c.1595G>T
13 papers
NM_170784.3
p.G250R
c.748G>A
12 papers
NM_170784.3
p.G250R
c.748G>C
11 papers
NM_170784.3
p.P39L
c.116C>T
11 papers
NM_170784.3
p.S479*
c.1436C>G
10 papers
NM_170784.3
p.S479*
c.1436C>A
8 papers
NM_170784.3
p.G52D
c.155G>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."