Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.T293A

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.T293A
c.877A>G
Surrounding Variants
1 paper
NM_024301.5
p.T293P
c.877A>C
4 papers
NM_024301.5
p.T293I
c.878C>T
1 paper
NM_024301.5
p.K291fs
c.871_872fs
1 paper
NM_024301.5
p.R295G
c.883C>G
2 papers
NM_024301.5
p.K291delFs
c.872delA
1 paper
NM_024301.5
p.C296S
c.886T>A
1 paper
NM_024301.5
p.C296S
c.887G>C
2 papers
NM_024301.5
p.C289S
c.866G>C
2 papers
NM_024301.5
p.C289S
c.865T>A
1 paper
NM_024301.5
p.F297L
c.889T>C
1 paper
NM_024301.5
p.G288_C289insFs
c.864_865insA
2 papers
NM_024301.5
p.G288S
c.862G>A
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