Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.R23G

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.R23G
c.67A>G
Surrounding Variants
1 paper
NM_170784.3
p.R23K
c.68G>A
1 paper
NM_170784.3
p.E20K
c.58G>A
6 papers
NM_170784.3
p.T19T
c.57T>A
1 paper
NM_170784.3
p.P16T
c.46C>A
1 paper
NM_170784.3
p.E15D
c.45A>C
1 paper
NM_170784.3
p.I32M
c.96T>G
1 paper
NM_170784.3
p.C12Y
c.35G>A
1 paper
NM_170784.3
p.S35_C36del1
c.104_106delATG
21 papers
NM_170784.3
p.Y37C
c.110A>G
11 papers
NM_170784.3
p.P39L
c.116C>T
3 papers
NM_170784.3
p.P39P
c.117C>T
1 paper
NM_170784.3
p.A6T
c.16G>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."