Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.W55C

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.W55C
c.165G>C
Surrounding Variants
1 paper
NM_001079802.2
p.W55C
c.165G>T
1 paper
NM_001079802.2
p.Q54E
c.160C>G
3 papers
NM_001079802.2
p.Q54*
c.160C>T
1 paper
NM_001079802.2
p.W55_R56Splc
c.165+6T>C
1 paper
NM_001079802.2
p.G49E
c.146G>A
28 papers
NM_001079802.2
p.R47*
c.139C>T
1 paper
NM_001079802.2
p.S46_G49del4
c.136_146del12
1 paper
NM_001079802.2
p.K42E
c.124A>G
1 paper
NM_001079802.2
p.G39insFs
c.115dupG
1 paper
NM_001079802.2
p.G37A
c.110G>C
3 papers
NM_001079802.2
p.W55_R56Splc
c.165+835T>G
1 paper
NM_001079802.2
p.W55_R56Splc
c.165+1427A>G
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