Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L353*

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
5 papers
NM_001079802.2
p.L353*
c.1058T>A
Surrounding Variants
1 paper
NM_001079802.2
p.E350*
c.1048G>T
1 paper
NM_001079802.2
p.V349A
c.1046T>C
1 paper
NM_001079802.2
p.V349fs
c.1045_1046fs
15 papers
NM_001079802.2
p.Q358P
c.1073A>C
2 papers
NM_001079802.2
p.G359E
c.1076G>A
1 paper
NM_001079802.2
p.G359A
c.1076G>C
3 papers
NM_001079802.2
p.G359_K360insFs
c.1077_1078insG
1 paper
NM_001079802.2
p.K348_V349Splc
c.1045-6C>G
1 paper
NM_001079802.2
p.V363G
c.1088T>G
1 paper
NM_001079802.2
p.V367fs
c.1099_1100fs
5 papers
NM_001079802.2
p.F369insFs
c.1106_1107insT
7 papers
NM_001079802.2
p.V367delFs
c.1100delT
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