Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L16delins

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.L16delins
c.47delinsTCTCTCT
Surrounding Variants
1 paper
NM_024301.5
p.L16Fs
c.47delinsTCTCTFs
1 paper
NM_024301.5
p.L18insFs
c.54dupT
1 paper
NM_024301.5
p.A13V
c.38C>T
1 paper
NM_024301.5
p.A13T
c.37G>A
1 paper
NM_024301.5
p.A13S
c.37G>T
1 paper
NM_024301.5
p.A13delFs
c.38delC
2 papers
NM_024301.5
p.L19_Y23del5
c.55_68del15
1 paper
NM_024301.5
p.A12_A13Fs
c.36_37delinsGFs
1 paper
NM_024301.5
p.V20_F22del3
c.58_65del9
1 paper
NM_024301.5
p.A11E
c.32C>A
1 paper
NM_024301.5
p.L21L
c.63C>A
1 paper
NM_024301.5
p.A9insFs
c.25_26insC
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