Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R265P

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.R265P
c.794G>C
Surrounding Variants
1 paper
NM_024301.5
p.R265Q
c.794G>A
2 papers
NM_024301.5
p.A266T
c.796G>A
1 paper
NM_024301.5
p.A266P
c.796G>C
1 paper
NM_024301.5
p.A266insFs
c.797_798insC
1 paper
NM_024301.5
p.A267fs
c.799_800fs
1 paper
NM_024301.5
p.A263T
c.787G>A
1 paper
NM_024301.5
p.L268L
c.802C>T
1 paper
NM_024301.5
p.G261G
c.783A>C
1 paper
NM_024301.5
p.G261G
c.783A>G
1 paper
NM_024301.5
p.G261G
c.783A>T
1 paper
NM_024301.5
p.G261E
c.782G>A
4 papers
NM_024301.5
p.R270C
c.808C>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."