Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.A114T

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
9 papers
NM_001079802.2
p.A114T
c.340G>A
Surrounding Variants
3 papers
NM_001079802.2
p.A114G
c.341C>G
1 paper
NM_001079802.2
p.L115_Q116delins
c.345_346delinsCT
12 papers
NM_001079802.2
p.Q116*
c.346C>T
1 paper
NM_001079802.2
p.A112T
c.334G>A
1 paper
NM_001079802.2
p.Y117insFs
c.349dupT
1 paper
NM_001079802.2
p.Y117fs
c.349_350fs
1 paper
NM_001079802.2
p.F110delFs
c.329_330delTT
1 paper
NM_001079802.2
p.D109N
c.325G>A
2 papers
NM_001079802.2
p.C105F
c.314G>T
1 paper
NM_001079802.2
p.N122K
c.366T>A
1 paper
NM_001079802.2
p.N122K
c.366T>G
1 paper
NM_001079802.2
p.E123K
c.367G>A
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