Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.G125S

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
11 papers
NM_001079802.2
p.G125S
c.373G>A
Surrounding Variants
2 papers
NM_001079802.2
p.G125V
c.374G>T
2 papers
NM_001079802.2
p.R128W
c.382C>T
1 paper
NM_001079802.2
p.R128Q
c.383G>A
3 papers
NM_001079802.2
p.I129delFs
c.385delA
1 paper
NM_001079802.2
p.I129fs
c.385_386fs
1 paper
NM_001079802.2
p.A130_E131insFs
c.390_391ins4
1 paper
NM_001079802.2
p.E131K
c.391G>A
1 paper
NM_001079802.2
p.M133L
c.397A>T
3 papers
NM_001079802.2
p.M133T
c.398T>C
1 paper
NM_001079802.2
p.F135L
c.403T>C
1 paper
NM_001079802.2
p.F135L
c.405T>A
1 paper
NM_001079802.2
p.F135L
c.405T>G
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