Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A306V

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.A306V
c.917C>T
Surrounding Variants
1 paper
NM_024301.5
p.A306_Y307del1
c.917_919delCCT
47 papers
NM_024301.5
p.Y307N
c.919T>A
2 papers
NM_024301.5
p.Y307D
c.919T>G
3 papers
NM_024301.5
p.P305L
c.914C>T
3 papers
NM_024301.5
p.P305S
c.913C>T
8 papers
NM_024301.5
p.Y309C
c.926A>G
1 paper
NM_024301.5
p.D303delins
c.907_908delinsGT
6 papers
NM_024301.5
p.E310del1
c.928_929delGAG
10 papers
NM_024301.5
p.E310*
c.928G>T
1 paper
NM_024301.5
p.E311_R312delFs
c.933_934delGC
2 papers
NM_024301.5
p.R312G
c.934C>G
4 papers
NM_024301.5
p.R312C
c.934C>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."