Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.R216Splc

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.R216Splc
c.647+1969A>T
Surrounding Variants
1 paper
NM_001079802.2
p.R216Splc
c.647+1977A>T
1 paper
NM_001079802.2
p.R216Splc
c.647+2084G>A
18 papers
NM_001079802.2
p.R216Splc
c.647+2084G>T
1 paper
NM_001079802.2
p.R216Splc
c.648-1G>A
1 paper
NM_001079802.2
p.R216Splc
c.648-1G>T
1 paper
NM_001079802.2
p.P217Q
c.650C>A
1 paper
NM_001079802.2
p.P217P
c.651A>T
1 paper
NM_001079802.2
p.E218V
c.653A>T
1 paper
NM_001079802.2
p.V224delFs
c.672delT
3 papers
NM_001079802.2
p.D225N
c.673G>A
1 paper
NM_001079802.2
p.D225fs
c.673_674fs
3 papers
NM_001079802.2
p.D225E
c.675T>A
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