Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.S479*

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
11 papers
NM_170784.3
p.S479*
c.1436C>G
Surrounding Variants
10 papers
NM_170784.3
p.S479*
c.1436C>A
1 paper
NM_170784.3
p.D483H
c.1447G>C
1 paper
NM_170784.3
p.D471D
c.1413C>T
1 paper
NM_170784.3
p.A488T
c.1462G>A
1 paper
NM_170784.3
p.D492N
c.1474G>A
1 paper
NM_170784.3
p.Q496*
c.1486C>T
1 paper
NM_170784.3
p.L461*
c.1382T>G
1 paper
NM_170784.3
p.L461*
c.1382T>A
1 paper
NM_170784.3
p.S460P
c.1378T>C
5 papers
NM_170784.3
p.C499S
c.1495T>A
5 papers
NM_170784.3
p.C499S
c.1496G>C
1 paper
NM_170784.3
p.C499Y
c.1496G>A
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