Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.C318S

FKRP

609 papers

RefSeq Summary

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congen...

Pfam Domains

FKRP_Naa 36–280UCSCFukutin-related protein stem domain
LicDaa 333–374UCSCLicD family

Gene Aliases

HGNC Name

fukutin related protein

HGNC Alias Symbols

LGMD2I; MDC1C; FKTR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024301.5
p.C318S
c.953G>C
Surrounding Variants
21 papers
NM_024301.5
p.C318Y
c.953G>A
2 papers
NM_024301.5
p.C318S
c.952T>A
2 papers
NM_024301.5
p.C317S
c.950G>C
4 papers
NM_024301.5
p.L319R
c.956T>G
1 paper
NM_024301.5
p.L319L
c.957G>A
2 papers
NM_024301.5
p.C317S
c.949T>A
4 papers
NM_024301.5
p.C317fs
c.949_950fs
1 paper
NM_024301.5
p.P316H
c.947C>A
8 papers
NM_024301.5
p.P316R
c.947C>G
5 papers
NM_024301.5
p.P316T
c.946C>A
2 papers
NM_024301.5
p.P316A
c.946C>G
6 papers
NM_024301.5
p.P316S
c.946C>T
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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."