Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.R3C

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
2 papers
NM_170784.3
p.R3C
c.7C>T
Surrounding Variants
1 paper
NM_170784.3
p.R3L
c.8G>T
1 paper
NM_170784.3
p.R3H
c.8G>A
2 papers
NM_170784.3
p.M1I
c.3G>T
2 papers
NM_170784.3
p.M1I
c.3G>C
3 papers
NM_170784.3
p.M1I
c.3G>A
1 paper
NM_170784.3
p.M1Fs
c.1delinsAAFs
2 papers
NM_170784.3
p.M1R
c.2T>G
1 paper
NM_170784.3
p.M1delins
c.2delinsAAAG
1 paper
NM_170784.3
p.M1K
c.2T>A
1 paper
NM_170784.3
p.E5insFs
c.13dupG
1 paper
NM_170784.3
p.A6T
c.16G>A
1 paper
NM_170784.3
p.C12Y
c.35G>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."