Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.N463S

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.N463S
c.1388A>G
Surrounding Variants
16 papers
NM_024301.5
p.N463D
c.1387A>G
3 papers
NM_024301.5
p.N464I
c.1391A>T
15 papers
NM_024301.5
p.P462S
c.1384C>T
5 papers
NM_024301.5
p.Y465S
c.1394A>C
1 paper
NM_024301.5
p.A461P
c.1381G>C
1 paper
NM_024301.5
p.Q460E
c.1378C>G
5 papers
NM_024301.5
p.Q460*
c.1378C>T
2 papers
NM_024301.5
p.A459E
c.1376C>A
1 paper
NM_024301.5
p.R467_F468del1
c.1401_1403delCTT
1 paper
NM_024301.5
p.V458insFs
c.1374dupG
1 paper
NM_024301.5
p.F457L
c.1371C>G
1 paper
NM_024301.5
p.G456G
c.1368C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."