Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.N310S

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
2 papers
NM_001079802.2
p.N310S
c.929A>G
Surrounding Variants
1 paper
NM_001079802.2
p.I311_I312delFs
c.933_934delTA
1 paper
NM_001079802.2
p.Q308*
c.922C>T
1 paper
NM_001079802.2
p.P313L
c.938C>T
21 papers
NM_001079802.2
p.R307Q
c.920G>A
14 papers
NM_001079802.2
p.R307*
c.919C>T
1 paper
NM_001079802.2
p.Y306C
c.917A>G
4 papers
NM_001079802.2
p.W305*
c.915G>A
6 papers
NM_001079802.2
p.W305C
c.915G>C
6 papers
NM_001079802.2
p.W305C
c.915G>T
2 papers
NM_001079802.2
p.W305*
c.914G>A
2 papers
NM_001079802.2
p.D317A
c.950A>C
1 paper
NM_001079802.2
p.V318D
c.953T>A
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