Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R244L

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.R244L
c.731G>T
Surrounding Variants
4 papers
NM_024301.5
p.R244H
c.731G>A
1 paper
NM_024301.5
p.P246delFs
c.736delC
1 paper
NM_024301.5
p.A242_R244del3
c.724_731del9
1 paper
NM_024301.5
p.A241T
c.721G>A
1 paper
NM_024301.5
p.L248L
c.742C>T
1 paper
NM_024301.5
p.L248P
c.743T>C
2 papers
NM_024301.5
p.L248R
c.743T>G
1 paper
NM_024301.5
p.A249T
c.745G>A
1 paper
NM_024301.5
p.A251S
c.751G>T
1 paper
NM_024301.5
p.A251insFs
c.752_753ins11
1 paper
NM_024301.5
p.A253T
c.757G>A
1 paper
NM_024301.5
p.A253V
c.758C>T
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