Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.P232P

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.P232P
c.696T>G
Surrounding Variants
1 paper
NM_170784.3
p.P232L
c.695C>T
1 paper
NM_170784.3
p.I233L
c.697A>C
2 papers
NM_170784.3
p.S236P
c.706T>C
2 papers
NM_170784.3
p.S236*
c.707C>G
2 papers
NM_170784.3
p.S236*
c.707C>A
1 paper
NM_170784.3
p.S236delFs
c.707delG
2 papers
NM_170784.3
p.T237A
c.709A>G
1 paper
NM_170784.3
p.T237P
c.709A>C
1 paper
NM_170784.3
p.V225insFs
c.674dupT
1 paper
NM_170784.3
p.V225insFs
c.674_675ins10
1 paper
NM_170784.3
p.V225insFs
c.673_674insAA
46 papers
NM_170784.3
p.A242S
c.724G>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."