Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.R309H

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.R309H
c.926G>A
Surrounding Variants
1 paper
NM_170784.3
p.G317fs
c.949_950fs
1 paper
NM_170784.3
p.V318E
c.953T>A
1 paper
NM_170784.3
p.P299L
c.896C>T
1 paper
NM_170784.3
p.H298insFs
c.892_893dupCA
1 paper
NM_170784.3
p.H298P
c.893A>C
1 paper
NM_170784.3
p.G317_L320delFs
c.950_960del11
5 papers
NM_170784.3
p.I297T
c.890T>C
1 paper
NM_170784.3
p.P323L
c.968C>T
1 paper
NM_170784.3
p.Q294H
c.882A>C
6 papers
NM_170784.3
p.T325P
c.973A>C
1 paper
NM_170784.3
p.L292_C293insFs
c.876_877ins4
3 papers
NM_170784.3
p.V291F
c.871G>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."