Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.D360N

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
3 papers
NM_024301.5
p.D360N
c.1078G>A
Surrounding Variants
1 paper
NM_024301.5
p.D360H
c.1078G>C
2 papers
NM_024301.5
p.D360A
c.1079A>C
4 papers
NM_024301.5
p.W359S
c.1076G>C
3 papers
NM_024301.5
p.W359_D360insFs
c.1077_1078insG
16 papers
NM_024301.5
p.P358L
c.1073C>T
2 papers
NM_024301.5
p.D362A
c.1085A>C
1 paper
NM_024301.5
p.D362E
c.1086C>A
2 papers
NM_024301.5
p.V363L
c.1087G>C
2 papers
NM_024301.5
p.V363L
c.1087G>T
1 paper
NM_024301.5
p.V363G
c.1088T>G
6 papers
NM_024301.5
p.I356T
c.1067T>C
2 papers
NM_024301.5
p.D364A
c.1091A>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."