Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W178C

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
6 papers
NM_024301.5
p.W178C
c.534G>C
Surrounding Variants
8 papers
NM_024301.5
p.W178C
c.534G>T
2 papers
NM_024301.5
p.A180_R190insFs
c.540_570dup31
1 paper
NM_024301.5
p.W178G
c.532T>G
1 paper
NM_024301.5
p.R181R
c.543C>A
1 paper
NM_024301.5
p.R181R
c.543C>G
1 paper
NM_024301.5
p.R181R
c.543C>T
2 papers
NM_024301.5
p.Y182H
c.544T>C
29 papers
NM_024301.5
p.Y182C
c.545A>G
1 paper
NM_024301.5
p.Y182F
c.545A>T
10 papers
NM_024301.5
p.S174C
c.520A>T
1 paper
NM_024301.5
p.A184delFs
c.550delG
1 paper
NM_024301.5
p.V173G
c.518T>G
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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."