Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L74F

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
1 paper
NM_001079802.2
p.L74F
c.220C>T
Surrounding Variants
1 paper
NM_001079802.2
p.F73S
c.218T>C
1 paper
NM_001079802.2
p.D76N
c.226G>A
3 papers
NM_001079802.2
p.P77S
c.229C>T
1 paper
NM_001079802.2
p.P77L
c.230C>T
1 paper
NM_001079802.2
p.L78F
c.234G>C
1 paper
NM_001079802.2
p.L78F
c.234G>T
1 paper
NM_001079802.2
p.L80L
c.238C>T
3 papers
NM_001079802.2
p.M63V
c.187A>G
1 paper
NM_001079802.2
p.M63fs
c.187_188fs
1 paper
NM_001351497.2
p.M40_T42del3
c.118_125del9
1 paper
NM_001079802.2
p.M63delFs
c.187_188delAT
1 paper
NM_001079802.2
p.F61C
c.182T>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."