Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.P77L

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.P77L
c.230C>T
Surrounding Variants
3 papers
NM_001079802.2
p.P77S
c.229C>T
1 paper
NM_001079802.2
p.D76N
c.226G>A
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
1 paper
NM_001079802.2
p.L74F
c.220C>T
1 paper
NM_001079802.2
p.F73S
c.218T>C
1 paper
NM_001079802.2
p.E88Q
c.262G>C
1 paper
NM_001079802.2
p.Q89E
c.265C>G
1 paper
NM_001079802.2
p.Q89*
c.265C>T
1 paper
NM_001079802.2
p.Q89R
c.266A>G
1 paper
NM_001079802.2
p.K91E
c.271A>G
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