Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.D196H

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.D196H
c.586G>C
Surrounding Variants
1 paper
NM_001079802.2
p.K192R
c.575A>G
1 paper
NM_001079802.2
p.V200_K204del0
c.598_612del15
1 paper
NM_001079802.2
p.K192_E193delFs
c.576_579del4
1 paper
NM_001079802.2
p.L191delFs
c.572delT
1 paper
NM_001079802.2
p.F202Y
c.605T>A
9 papers
NM_001079802.2
p.R203*
c.607C>T
NM_001351497.2
p.R180*
c.538C>T
1 paper
NM_001079802.2
p.R203delins
c.607_608delinsTA
10 papers
NM_001079802.2
p.R203Q
c.608G>A
1 paper
NM_001079802.2
p.K204Q
c.610A>C
1 paper
NM_001079802.2
p.H188Y
c.562C>T
1 paper
NM_001079802.2
p.K204_L205ins1
c.612_613insGTC
3 papers
NM_001079802.2
p.H186R
c.557A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."