Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V200_A204del0

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.V200_A204del0
c.598_612del15
Surrounding Variants
1 paper
NM_024301.5
p.V200delFs
c.599delT
1 paper
NM_024301.5
p.V200fs
c.598_599fs
1 paper
NM_024301.5
p.L201P
c.602T>C
4 papers
NM_024301.5
p.L202Q
c.605T>A
1 paper
NM_024301.5
p.L202L
c.606G>A
1 paper
NM_024301.5
p.R203C
c.607C>T
5 papers
NM_024301.5
p.G196R
c.586G>A
4 papers
NM_024301.5
p.G196R
c.586G>C
1 paper
NM_024301.5
p.A204_D206del3
c.610_617del9
2 papers
NM_024301.5
p.D195D
c.585C>T
1 paper
NM_024301.5
p.D195G
c.584A>G
2 papers
NM_024301.5
p.L194P
c.581T>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."