Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.F176S

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
6 papers
NM_001079802.2
p.F176S
c.527T>C
Surrounding Variants
1 paper
NM_001079802.2
p.V174A
c.521T>C
2 papers
NM_001079802.2
p.E178D
c.534G>T
1 paper
NM_001079802.2
p.V174delFs
c.521delT
1 paper
NM_001079802.2
p.L173L
c.519G>A
21 papers
NM_001079802.2
p.R179T
c.536G>C
5 papers
NM_001079802.2
p.H172R
c.515A>G
2 papers
NM_001079802.2
p.H172L
c.515A>T
1 paper
NM_001079802.2
p.N182H
c.544A>C
1 paper
NM_001079802.2
p.N182Y
c.544A>T
2 papers
NM_001079802.2
p.N182T
c.545A>C
4 papers
NM_001079802.2
p.N182S
c.545A>G
5 papers
NM_001079802.2
p.A170E
c.509C>A
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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."