Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.N379D

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.N379D
c.1135A>G
Surrounding Variants
1 paper
NM_001079802.2
p.W378R
c.1132T>A
1 paper
NM_001079802.2
p.W378R
c.1132T>C
1 paper
NM_001079802.2
p.G381delFs
c.1141delG
1 paper
NM_001079802.2
p.D375_H376insFs
c.1124_1127dup4
1 paper
NM_001079802.2
p.E373*
c.1117G>T
1 paper
NM_001079802.2
p.E372del1
c.1114_1116delGAA
15 papers
NM_001079802.2
p.Y371C
c.1112A>G
1 paper
NM_001079802.2
p.G387fs
c.1159_1160fs
17 papers
NM_001079802.2
p.K389insFs
c.1167dupA
1 paper
NM_001079802.2
p.F370fs
c.1108_1109fs
1 paper
NM_001079802.2
p.K389fs
c.1165_1166fs
3 papers
NM_001079802.2
p.F369fs
c.1105_1106fs
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