Varaico: Literature-Extracted Genetic Variants

Gene:FKRP

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
1–12 of 555 variants
282 papers
NM_024301.5
p.L276I
c.826C>A
88 papers
NM_024301.5
p.P448L
c.1343C>T
47 papers
NM_024301.5
p.Y307N
c.919T>A
40 papers
NM_024301.5
p.A455D
c.1364C>A
29 papers
NM_024301.5
p.Y182C
c.545A>G
21 papers
NM_024301.5
p.C318Y
c.953G>A
16 papers
NM_024301.5
p.V300A
c.899T>C
16 papers
NM_024301.5
p.P358L
c.1073C>T
16 papers
NM_024301.5
p.N463D
c.1387A>G
15 papers
NM_024301.5
p.P462S
c.1384C>T
14 papers
NM_024301.5
p.A114G
c.341C>G
14 papers
NM_024301.5
p.S221R
c.661A>C
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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."