Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.C168S

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
2 papers
NM_024301.5
p.C168S
c.503G>C
Surrounding Variants
2 papers
NM_024301.5
p.C168S
c.502T>A
3 papers
NM_024301.5
p.C168R
c.502T>C
1 paper
NM_024301.5
p.R167S
c.501G>C
1 paper
NM_024301.5
p.R167S
c.501G>T
1 paper
NM_024301.5
p.R167_C168delins
c.501_502delinsCC
5 papers
NM_024301.5
p.L169P
c.506T>C
1 paper
NM_024301.5
p.A170D
c.509C>A
1 paper
NM_024301.5
p.L171L
c.511C>T
1 paper
NM_024301.5
p.P165L
c.494C>T
1 paper
NM_024301.5
p.P165S
c.493C>T
1 paper
NM_024301.5
p.N164S
c.491A>G
1 paper
NM_024301.5
p.N164Y
c.490A>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."