Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.P141R

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.P141R
c.422C>G
Surrounding Variants
1 paper
NM_170784.3
p.R139R
c.417A>C
1 paper
NM_170784.3
p.R139Q
c.416G>A
1 paper
NM_170784.3
p.R139*
c.415C>T
1 paper
NM_170784.3
p.D143fs
c.427_428fs
4 papers
NM_170784.3
p.F144fs
c.430_431fs
1 paper
NM_170784.3
p.D143_F144delFs
c.429_430delAG
1 paper
NM_170784.3
p.D143_S145Fs
c.429_434delinsTTFs
1 paper
NM_170784.3
p.S145delFs
c.433_434delCT
3 papers
NM_170784.3
p.F144_S145delFs
c.432_435del4
1 paper
NM_170784.3
p.Q148*
c.442C>T
1 paper
NM_170784.3
p.F144_T147delFs
c.431_441del11
1 paper
NM_170784.3
p.I149M
c.447C>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."