Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.F390fs

FKTN

343 papers

RefSeq Summary

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal mus...

Pfam Domains

FKTN_Naa 1–278UCSCFukutin N-terminal
LicDaa 288–354UCSCLicD family

Gene Aliases

HGNC Name

fukutin

HGNC Previous Symbol

FCMD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001079802.2
p.F390fs
c.1168_1169fs
Surrounding Variants
3 papers
NM_001079802.2
p.F390I
c.1168T>A
10 papers
NM_001079802.2
p.F390fs
c.1168_1169fs
2 papers
NM_001079802.2
p.F390Y
c.1169T>A
1 paper
NM_001079802.2
p.K389_F390insFs
c.1167_1168dupAT
1 paper
NM_001079802.2
p.K389fs
c.1165_1166fs
1 paper
NM_001079802.2
p.K391Splc
c.1172+1G>A
17 papers
NM_001079802.2
p.K389insFs
c.1167dupA
1 paper
NM_001079802.2
p.G387fs
c.1159_1160fs
1 paper
NM_001079802.2
p.G381delFs
c.1141delG
1 paper
NM_001079802.2
p.N379D
c.1135A>G
1 paper
NM_001079802.2
p.W378R
c.1132T>A
1 paper
NM_001079802.2
p.W378R
c.1132T>C
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."