Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.F258V

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.F258V
c.772T>G
Surrounding Variants
1 paper
NM_001079802.2
p.A257G
c.770C>G
1 paper
NM_001079802.2
p.F259L
c.775T>C
1 paper
NM_001079802.2
p.F259L
c.777T>A
1 paper
NM_001079802.2
p.F259L
c.777T>G
1 paper
NM_001079802.2
p.R256*
c.766C>T
9 papers
NM_001079802.2
p.C250G
c.748T>G
1 paper
NM_001079802.2
p.R246K
c.737G>A
5 papers
NM_001079802.2
p.R246G
c.736A>G
1 paper
NM_001079802.2
p.V242G
c.725T>G
1 paper
NM_001079802.2
p.E240G
c.719A>G
1 paper
NM_001079802.2
p.M236V
c.706A>G
1 paper
NM_001079802.2
p.D234N
c.700G>A
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