Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.I566T

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.I566T
c.1697T>C
Surrounding Variants
1 paper
NM_170784.3
p.L562F
c.1684C>T
1 paper
NM_170784.3
p.L560*
c.1679T>A
1 paper
NM_170784.3
p.N557S
c.1670A>G
1 paper
NM_170784.3
p.N557H
c.1669A>C
1 paper
NM_170784.3
p.T555R
c.1664C>G
1 paper
NM_170784.3
p.E554K
c.1660G>A
2 papers
NM_170784.3
p.A552D
c.1655C>A
1 paper
NM_170784.3
p.Q550*
c.1648C>T
4 papers
NM_170784.3
p.L549P
c.1646T>C
1 paper
NM_170784.3
p.G548D
c.1643G>A
1 paper
NM_170784.3
p.T538T
c.1614C>T
15 papers
NM_170784.3
p.G532V
c.1595G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."