Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L342L

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
4 papers
NM_001079802.2
p.L342L
c.1026C>A
Surrounding Variants
1 paper
NM_001079802.2
p.P341L
c.1022C>T
1 paper
NM_001079802.2
p.G339E
c.1016G>A
1 paper
NM_001079802.2
p.G347_K348insFs
c.1039_1043dup5
1 paper
NM_001079802.2
p.K348insFs
c.1044dupG
1 paper
NM_001079802.2
p.K348K
c.1044G>A
1 paper
NM_001079802.2
p.A334S
c.1000G>T
1 paper
NM_001079802.2
p.I332fs
c.994_995fs
1 paper
NM_001079802.2
p.I332insFs
c.994_995insT
1 paper
NM_001079802.2
p.K328Q
c.982A>C
1 paper
NM_001079802.2
p.K348_V349Splc
c.1044+44A>G
1 paper
NM_001079802.2
p.D319A
c.956A>C
1 paper
NM_001079802.2
p.D319G
c.956A>G
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