Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V218V

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
1 paper
NM_024301.5
p.V218V
c.654G>A
Surrounding Variants
2 papers
NM_024301.5
p.G219S
c.655G>A
2 papers
NM_024301.5
p.G219R
c.655G>C
1 paper
NM_024301.5
p.G219delFs
c.657delC
1 paper
NM_024301.5
p.T220P
c.658A>C
3 papers
NM_024301.5
p.P217Q
c.650C>A
5 papers
NM_024301.5
p.P217T
c.649C>A
1 paper
NM_024301.5
p.P217S
c.649C>T
2 papers
NM_024301.5
p.R216R
c.648G>A
14 papers
NM_024301.5
p.S221R
c.661A>C
1 paper
NM_024301.5
p.R216G
c.646C>G
3 papers
NM_024301.5
p.R216W
c.646C>T
2 papers
NM_024301.5
p.S221N
c.662G>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."