Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R54G

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
3 papers
NM_024301.5
p.R54G
c.160C>G
Surrounding Variants
2 papers
NM_024301.5
p.R54_E55insFs
c.162_165dup4
8 papers
NM_024301.5
p.R54W
c.160C>T
2 papers
NM_024301.5
p.R54Q
c.161G>A
1 paper
NM_024301.5
p.V53G
c.158T>G
1 paper
NM_024301.5
p.V53M
c.157G>A
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
1 paper
NM_024301.5
p.F56insFs
c.167dupT
1 paper
NM_024301.5
p.E55D
c.165G>T
3 papers
NM_024301.5
p.V53_R54insFs
c.158_162dup5
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