Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V173insFs

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.V173insFs
c.518_519insC
Surrounding Variants
1 paper
NM_024301.5
p.V173G
c.518T>G
10 papers
NM_024301.5
p.S174C
c.520A>T
1 paper
NM_024301.5
p.L171L
c.511C>T
1 paper
NM_024301.5
p.A170D
c.509C>A
5 papers
NM_024301.5
p.L169P
c.506T>C
1 paper
NM_024301.5
p.W178G
c.532T>G
2 papers
NM_024301.5
p.C168S
c.503G>C
6 papers
NM_024301.5
p.W178C
c.534G>C
8 papers
NM_024301.5
p.W178C
c.534G>T
2 papers
NM_024301.5
p.C168S
c.502T>A
3 papers
NM_024301.5
p.C168R
c.502T>C
2 papers
NM_024301.5
p.A180_R190insFs
c.540_570dup31
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."