Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P448L

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
88 papers
NM_024301.5
p.P448L
c.1343C>T
Surrounding Variants
2 papers
NM_024301.5
p.P448S
c.1342C>T
1 paper
NM_024301.5
p.Q447Q
c.1341G>A
4 papers
NM_024301.5
p.P453S
c.1357C>T
1 paper
NM_024301.5
p.E443K
c.1327G>A
2 papers
NM_024301.5
p.F454I
c.1360T>A
1 paper
NM_024301.5
p.P442L
c.1325C>T
1 paper
NM_024301.5
p.A455_G456insC
c.1363_1367ins3
3 papers
NM_024301.5
p.F441L
c.1323T>A
3 papers
NM_024301.5
p.F441L
c.1323T>G
40 papers
NM_024301.5
p.A455D
c.1364C>A
3 papers
NM_024301.5
p.F441L
c.1321T>C
1 paper
NM_024301.5
p.G456S
c.1366G>A
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