Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A92_P94del3

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.A92_P94del3
c.274_281del9
Surrounding Variants
1 paper
NM_024301.5
p.L91_N98delFs
c.273_292del20
1 paper
NM_024301.5
p.L91L
c.271C>T
1 paper
NM_024301.5
p.A92V
c.275C>T
1 paper
NM_024301.5
p.L91fs
c.271_272fs
3 papers
NM_024301.5
p.L93P
c.278T>C
2 papers
NM_024301.5
p.P94delFs
c.281delC
1 paper
NM_024301.5
p.P94_I96del3
c.280_287del9
1 paper
NM_024301.5
p.P89Q
c.266C>A
1 paper
NM_024301.5
p.P94fs
c.280_281fs
3 papers
NM_024301.5
p.P89R
c.266C>G
10 papers
NM_024301.5
p.P89L
c.266C>T
1 paper
NM_024301.5
p.P94S
c.280C>T
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