Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.P145S

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.P145S
c.433C>T
Surrounding Variants
1 paper
NM_001079802.2
p.R146W
c.436C>T
1 paper
NM_001079802.2
p.R146Q
c.437G>A
1 paper
NM_001079802.2
p.S142_R146del0
c.426_437del12
1 paper
NM_001079802.2
p.D151G
c.452A>G
1 paper
NM_001079802.2
p.S152insFs
c.454dupT
6 papers
NM_001351500.2
p.C5*
c.15C>A
NM_001079802.2
p.C137*
c.411C>A
1 paper
NM_001079802.2
p.L153P
c.458T>C
1 paper
NM_001079802.2
p.S154T
c.460T>A
1 paper
NM_001079802.2
p.S154C
c.461C>G
1 paper
NM_001079802.2
p.F135L
c.405T>A
1 paper
NM_001079802.2
p.F135L
c.405T>G
1 paper
NM_001079802.2
p.F135L
c.403T>C
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