Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.T98S

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.T98S
c.292A>T
Surrounding Variants
1 paper
NM_001079802.2
p.C101S
c.301T>A
1 paper
NM_001079802.2
p.C101S
c.302G>C
6 papers
NM_001079802.2
p.C101F
c.302G>T
1 paper
NM_001079802.2
p.S94Y
c.281C>A
4 papers
NM_001079802.2
p.S94F
c.281C>T
1 paper
NM_001079802.2
p.K91E
c.271A>G
2 papers
NM_001079802.2
p.C105F
c.314G>T
1 paper
NM_001079802.2
p.Q89R
c.266A>G
1 paper
NM_001079802.2
p.Q89E
c.265C>G
1 paper
NM_001079802.2
p.Q89*
c.265C>T
1 paper
NM_001079802.2
p.E88Q
c.262G>C
1 paper
NM_001079802.2
p.D109N
c.325G>A
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