Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.S69fs

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.S69fs
c.205_206fs
Surrounding Variants
1 paper
NM_024301.5
p.S69Y
c.206C>A
1 paper
NM_024301.5
p.S69F
c.206C>T
1 paper
NM_024301.5
p.D68delFs
c.204delC
6 papers
NM_024301.5
p.S69del1
c.205_206delTCC
1 paper
NM_024301.5
p.F70I
c.208T>A
1 paper
NM_024301.5
p.Q73_Q77del5
c.217_230del15
2 papers
NM_024301.5
p.Q72*
c.214C>T
3 papers
NM_024301.5
p.Q73*
c.217C>T
1 paper
NM_024301.5
p.E65K
c.193G>A
1 paper
NM_024301.5
p.Q73R
c.218A>G
2 papers
NM_024301.5
p.P64P
c.192C>T
1 paper
NM_024301.5
p.P64H
c.191C>A
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