Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.K472N

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.K472N
c.1416G>T
Surrounding Variants
1 paper
NM_024301.5
p.K472N
c.1416G>C
4 papers
NM_024301.5
p.F473C
c.1418T>G
1 paper
NM_024301.5
p.P475delFs
c.1425delC
1 paper
NM_024301.5
p.R467_F468del1
c.1401_1403delCTT
7 papers
NM_024301.5
p.I478T
c.1433T>C
1 paper
NM_024301.5
p.I478S
c.1433T>G
1 paper
NM_024301.5
p.E479delFs
c.1437delG
5 papers
NM_024301.5
p.Y465S
c.1394A>C
1 paper
NM_024301.5
p.N480fs
c.1438_1439fs
3 papers
NM_024301.5
p.N464I
c.1391A>T
1 paper
NM_024301.5
p.P481R
c.1442C>G
1 paper
NM_024301.5
p.N463S
c.1388A>G
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