Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.S40*

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
5 papers
NM_170784.3
p.S40*
c.119C>G
Surrounding Variants
3 papers
NM_170784.3
p.S40*
c.119C>A
4 papers
NM_170784.3
p.G41R
c.121G>C
3 papers
NM_170784.3
p.P39P
c.117C>T
11 papers
NM_170784.3
p.P39L
c.116C>T
21 papers
NM_170784.3
p.Y37C
c.110A>G
1 paper
NM_170784.3
p.S35_C36del1
c.104_106delATG
1 paper
NM_170784.3
p.Q45*
c.133C>T
1 paper
NM_170784.3
p.I32M
c.96T>G
1 paper
NM_170784.3
p.G49V
c.146G>T
1 paper
NM_170784.3
p.F50C
c.149T>G
8 papers
NM_170784.3
p.G52D
c.155G>A
8 papers
NM_170784.3
p.T57A
c.169A>G
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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."