Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P94fs

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.P94fs
c.280_281fs
Surrounding Variants
1 paper
NM_024301.5
p.P94S
c.280C>T
2 papers
NM_024301.5
p.P94L
c.281C>T
2 papers
NM_024301.5
p.P94delFs
c.281delC
1 paper
NM_024301.5
p.P94_I96del3
c.280_287del9
3 papers
NM_024301.5
p.L93P
c.278T>C
1 paper
NM_024301.5
p.R95fs
c.283_284fs
1 paper
NM_024301.5
p.R95C
c.283C>T
1 paper
NM_024301.5
p.R95fs
c.283_284fs
1 paper
NM_024301.5
p.A92V
c.275C>T
1 paper
NM_024301.5
p.A92_P94del3
c.274_281del9
1 paper
NM_024301.5
p.L91_N98delFs
c.273_292del20
1 paper
NM_024301.5
p.P97T
c.289C>A
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