Varaico: Literature-Extracted Genetic Variants

Gene:MKKS
Variant:p.L374F

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.L374F
c.1120C>T
Surrounding Variants
1 paper
NM_170784.3
p.C376F
c.1127G>T
1 paper
NM_170784.3
p.N377D
c.1129A>G
1 paper
NM_170784.3
p.I370M
c.1110C>G
1 paper
NM_170784.3
p.N366K
c.1098T>A
1 paper
NM_170784.3
p.F361S
c.1082T>C
2 papers
NM_170784.3
p.K387_L388Splc
c.1161+3A>G
1 paper
NM_170784.3
p.F355_G356ins13
c.1063_1067ins39
1 paper
NM_170784.3
p.T352fs
c.1054_1055fs
1 paper
NM_170784.3
p.C351insFs
c.1051_1052dupTG
7 papers
NM_170784.3
p.G345E
c.1034G>A
1 paper
NM_170784.3
p.S343N
c.1028G>A
2 papers
NM_170784.3
p.K387_L388Splc
c.1161+58A>G
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."