Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.Q505fs

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.Q505fs
c.1513_1514fs
Surrounding Variants
1 paper
NM_170784.3
p.Q505delFs
c.1514delT
1 paper
NM_170784.3
p.E507*
c.1519G>T
1 paper
NM_170784.3
p.G500R
c.1498G>C
1 paper
NM_170784.3
p.G500R
c.1498G>A
3 papers
NM_170784.3
p.W510*
c.1529G>A
5 papers
NM_170784.3
p.C499S
c.1496G>C
3 papers
NM_170784.3
p.W510*
c.1530G>A
1 paper
NM_170784.3
p.C499Y
c.1496G>A
4 papers
NM_170784.3
p.S511A
c.1531T>G
5 papers
NM_170784.3
p.C499S
c.1495T>A
1 paper
NM_170784.3
p.Q496*
c.1486C>T
16 papers
NM_170784.3
p.R517C
c.1549C>T
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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."