Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.N61K

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.N61K
c.183C>G
Surrounding Variants
1 paper
NM_024301.5
p.A62V
c.185C>T
1 paper
NM_024301.5
p.D60G
c.179A>G
1 paper
NM_024301.5
p.P64H
c.191C>A
2 papers
NM_024301.5
p.P64P
c.192C>T
1 paper
NM_024301.5
p.A58V
c.173C>T
1 paper
NM_024301.5
p.E65K
c.193G>A
1 paper
NM_024301.5
p.E57insFs
c.171dupG
2 papers
NM_024301.5
p.E57K
c.169G>A
1 paper
NM_024301.5
p.F56L
c.168C>A
2 papers
NM_024301.5
p.E57_V63delFs
c.170_189del20
2 papers
NM_024301.5
p.F56I
c.166T>A
1 paper
NM_024301.5
p.F56fs
c.166_167fs
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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."