Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A253V

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.A253V
c.758C>T
Surrounding Variants
1 paper
NM_024301.5
p.A253_R254del1
c.759_761delGCG
1 paper
NM_024301.5
p.A253T
c.757G>A
1 paper
NM_024301.5
p.R254C
c.760C>T
2 papers
NM_024301.5
p.R254H
c.761G>A
1 paper
NM_024301.5
p.A251insFs
c.752_753ins11
4 papers
NM_024301.5
p.W255*
c.764G>A
3 papers
NM_024301.5
p.W255*
c.765G>A
1 paper
NM_024301.5
p.A251S
c.751G>T
1 paper
NM_024301.5
p.A249T
c.745G>A
1 paper
NM_024301.5
p.E258K
c.772G>A
1 paper
NM_024301.5
p.L248P
c.743T>C
2 papers
NM_024301.5
p.L248R
c.743T>G
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