Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.R56delFs

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.R56delFs
c.166delC
Surrounding Variants
5 papers
NM_001079802.2
p.R56C
c.166C>T
1 paper
NM_001079802.2
p.A57_M63delFs
c.170_189del20
2 papers
NM_001079802.2
p.W55_R56Splc
c.166-4A>G
1 paper
NM_001079802.2
p.A57T
c.169G>A
1 paper
NM_001079802.2
p.K60Q
c.178A>C
1 paper
NM_001079802.2
p.K60R
c.179A>G
1 paper
NM_001079802.2
p.F61C
c.182T>G
1 paper
NM_001079802.2
p.M63delFs
c.187_188delAT
1 paper
NM_001351497.2
p.M40_T42del3
c.118_125del9
3 papers
NM_001079802.2
p.M63V
c.187A>G
1 paper
NM_001079802.2
p.M63fs
c.187_188fs
1 paper
NM_001079802.2
p.F73S
c.218T>C
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