Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A455D

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
40 papers
NM_024301.5
p.A455D
c.1364C>A
Surrounding Variants
1 paper
NM_024301.5
p.A455_G456insC
c.1363_1367ins3
1 paper
NM_024301.5
p.G456S
c.1366G>A
1 paper
NM_024301.5
p.G456G
c.1368C>A
2 papers
NM_024301.5
p.F454I
c.1360T>A
1 paper
NM_024301.5
p.F457L
c.1371C>G
4 papers
NM_024301.5
p.P453S
c.1357C>T
1 paper
NM_024301.5
p.V458insFs
c.1374dupG
2 papers
NM_024301.5
p.A459E
c.1376C>A
1 paper
NM_024301.5
p.Q460E
c.1378C>G
5 papers
NM_024301.5
p.Q460*
c.1378C>T
1 paper
NM_024301.5
p.A461P
c.1381G>C
15 papers
NM_024301.5
p.P462S
c.1384C>T
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