Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.*496R

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
6 papers
NM_024301.5
p.*496R
c.1486T>A
Surrounding Variants
4 papers
NM_024301.5
p.*496R
c.1486T>C
2 papers
NM_024301.5
p.G493*
c.1477G>T
1 paper
NM_024301.5
p.T492_G493insFs
c.1476_1477ins17
1 paper
NM_024301.5
p.T492delFs
c.1475delC
2 papers
NM_024301.5
p.S490N
c.1469G>A
3 papers
NM_024301.5
p.L489R
c.1466T>G
1 paper
NM_024301.5
p.L488L
c.1462C>T
1 paper
NM_024301.5
p.Y483*
c.1449C>A
1 paper
NM_024301.5
p.Y483*
c.1449C>G
1 paper
NM_024301.5
p.Q482*
c.1444C>T
1 paper
NM_024301.5
p.P481R
c.1442C>G
1 paper
NM_024301.5
p.N480fs
c.1438_1439fs
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