Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P186insFs

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
3 papers
NM_024301.5
p.P186insFs
c.558dupC
Surrounding Variants
1 paper
NM_024301.5
p.A185V
c.554C>T
1 paper
NM_024301.5
p.A184V
c.551C>T
1 paper
NM_024301.5
p.A184delFs
c.550delG
2 papers
NM_024301.5
p.A187fs
c.559_560fs
1 paper
NM_024301.5
p.A187G
c.560C>G
1 paper
NM_024301.5
p.A187V
c.560C>T
29 papers
NM_024301.5
p.Y182C
c.545A>G
1 paper
NM_024301.5
p.Y182F
c.545A>T
1 paper
NM_024301.5
p.A188S
c.562G>T
1 paper
NM_024301.5
p.P189_R190delFs
c.566_570del5
2 papers
NM_024301.5
p.Y182H
c.544T>C
1 paper
NM_024301.5
p.R181R
c.543C>A
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