Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.K424_T425Splc

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.K424_T425Splc
c.1273-1G>C
Surrounding Variants
1 paper
NM_170784.3
p.I432F
c.1294A>T
1 paper
NM_170784.3
p.D435N
c.1303G>A
1 paper
NM_170784.3
p.D435G
c.1304A>G
1 paper
NM_170784.3
p.I432_D435del4
c.1294_1304del12
2 papers
NM_170784.3
p.T439delFs
c.1316delG
1 paper
NM_170784.3
p.Q440E
c.1318C>G
1 paper
NM_170784.3
p.S431_T441del11
c.1291_1322del33
2 papers
NM_170784.3
p.L445*
c.1334T>G
1 paper
NM_170784.3
p.L445*
c.1334T>A
4 papers
NM_170784.3
p.L454P
c.1361T>C
1 paper
NM_170784.3
p.E455K
c.1363G>A
1 paper
NM_170784.3
p.S460P
c.1378T>C
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