Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P130_D131insFs

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
2 papers
NM_024301.5
p.P130_D131insFs
c.390_391ins4
Surrounding Variants
1 paper
NM_024301.5
p.D131N
c.391G>A
1 paper
NM_024301.5
p.P130S
c.388C>T
1 paper
NM_024301.5
p.D131E
c.393T>A
1 paper
NM_024301.5
p.D131E
c.393T>G
1 paper
NM_024301.5
p.V129_P130insFs
c.387_390dup4
1 paper
NM_024301.5
p.A133E
c.398C>A
1 paper
NM_024301.5
p.A133V
c.398C>T
3 papers
NM_024301.5
p.R134W
c.400C>T
1 paper
NM_024301.5
p.R134_A135delFs
c.402_403delGG
1 paper
NM_024301.5
p.A135D
c.404C>A
1 paper
NM_024301.5
p.A135insFs
c.404_405insT
1 paper
NM_024301.5
p.V126_L128insFs
c.377_384dup8
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