Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V300M

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
8 papers
NM_024301.5
p.V300M
c.898G>A
Surrounding Variants
16 papers
NM_024301.5
p.V300A
c.899T>C
3 papers
NM_024301.5
p.V300V
c.900G>A
1 paper
NM_024301.5
p.G298E
c.893G>A
1 paper
NM_024301.5
p.F297L
c.889T>C
1 paper
NM_024301.5
p.D303delins
c.907_908delinsGT
1 paper
NM_024301.5
p.C296S
c.887G>C
1 paper
NM_024301.5
p.C296S
c.886T>A
1 paper
NM_024301.5
p.R295G
c.883C>G
3 papers
NM_024301.5
p.P305S
c.913C>T
3 papers
NM_024301.5
p.P305L
c.914C>T
1 paper
NM_024301.5
p.A306_Y307del1
c.917_919delCCT
1 paper
NM_024301.5
p.A306V
c.917C>T
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