Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
3 papers
NM_024301.5
p.M1T
c.2T>C
11 papers
NM_024301.5
p.M1V
c.1A>G
1 paper
NM_024301.5
p.M1I
c.3G>A
2 papers
NM_024301.5
p.R2Q
c.5G>A
1 paper
NM_024301.5
p.L3R
c.8T>G
1 paper
NM_024301.5
p.T4S
c.10A>T
1 paper
NM_024301.5
p.T4S
c.11C>G
1 paper
NM_024301.5
p.R5H
c.14G>A
1 paper
NM_024301.5
p.C6S
c.16T>A
1 paper
NM_024301.5
p.C6G
c.16T>G
2 papers
NM_024301.5
p.Q7_A8delFs
c.19_23del5
1 paper
NM_024301.5
p.C6S
c.17G>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."