Varaico: Literature-Extracted Genetic Variants

Gene:TMEM67
Variant:p.N242K

TMEM67

330 papers

RefSeq Summary

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multi...

Pfam Domains

Meckelinaa 167–995UCSCMeckelin (Transmembrane protein 67)

Gene Aliases

HGNC Name

transmembrane protein 67

HGNC Previous Symbol

MKS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153704.6
p.N242K
c.726T>G
Surrounding Variants
1 paper
NM_153704.6
p.N242K
c.726T>A
2 papers
NM_153704.6
p.N242T
c.725A>C
17 papers
NM_153704.6
p.N242S
c.725A>G
2 papers
NM_153704.6
p.T244A
c.730A>G
2 papers
NM_153704.6
p.A241G
c.722C>G
1 paper
NM_153704.6
p.V239V
c.717A>G
1 paper
NM_153704.6
p.V239G
c.716T>G
1 paper
NM_153704.6
p.C246Y
c.737G>A
2 papers
NM_153704.6
p.W238_V239Splc
c.715-2A>G
2 papers
NM_153704.6
p.Q247E
c.739C>G
5 papers
NM_153704.6
p.G250R
c.748G>A
5 papers
NM_153704.6
p.G250R
c.748G>C
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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."