Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.E172fs

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.E172fs
c.514_515fs
Surrounding Variants
1 paper
NM_170784.3
p.E172delFs
c.515_516delCT
1 paper
NM_170784.3
p.H173P
c.518A>C
1 paper
NM_170784.3
p.A176V
c.527C>T
4 papers
NM_170784.3
p.I178I
c.534C>T
1 paper
NM_170784.3
p.C164G
c.490T>G
2 papers
NM_170784.3
p.R180K
c.539G>A
2 papers
NM_170784.3
p.A181P
c.541G>C
1 paper
NM_170784.3
p.A181V
c.542C>T
1 paper
NM_170784.3
p.S160N
c.479G>A
2 papers
NM_170784.3
p.R155L
c.464G>T
1 paper
NM_170784.3
p.R155H
c.464G>A
1 paper
NM_170784.3
p.R155C
c.463C>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."