Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.V367A

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.V367A
c.1100T>C
Surrounding Variants
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
3 papers
NM_001079802.2
p.F369fs
c.1105_1106fs
2 papers
NM_001079802.2
p.F369fs
c.1105_1106fs
1 paper
NM_001079802.2
p.F370fs
c.1108_1109fs
15 papers
NM_001079802.2
p.Y371C
c.1112A>G
1 paper
NM_001079802.2
p.V363G
c.1088T>G
1 paper
NM_001079802.2
p.E372del1
c.1114_1116delGAA
1 paper
NM_001079802.2
p.E373*
c.1117G>T
3 papers
NM_001079802.2
p.G359_K360insFs
c.1077_1078insG
1 paper
NM_001079802.2
p.D375_H376insFs
c.1124_1127dup4
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