Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.F56L

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.F56L
c.168C>A
Surrounding Variants
2 papers
NM_024301.5
p.E57_V63delFs
c.170_189del20
2 papers
NM_024301.5
p.E57K
c.169G>A
1 paper
NM_024301.5
p.E57insFs
c.171dupG
2 papers
NM_024301.5
p.F56I
c.166T>A
1 paper
NM_024301.5
p.F56fs
c.166_167fs
1 paper
NM_024301.5
p.F56insFs
c.167dupT
1 paper
NM_024301.5
p.E55D
c.165G>T
1 paper
NM_024301.5
p.A58V
c.173C>T
2 papers
NM_024301.5
p.E55Q
c.163G>C
1 paper
NM_024301.5
p.E55insFs
c.164dupA
1 paper
NM_024301.5
p.E55ins1
c.164_165insACA
1 paper
NM_024301.5
p.E55fs
c.163_164fs
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."