Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R312L

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.R312L
c.935G>T
Surrounding Variants
1 paper
NM_024301.5
p.R312H
c.935G>A
2 papers
NM_024301.5
p.R312G
c.934C>G
4 papers
NM_024301.5
p.R312C
c.934C>T
1 paper
NM_024301.5
p.R312fs
c.934_935fs
1 paper
NM_024301.5
p.E311_R312delFs
c.933_934delGC
2 papers
NM_024301.5
p.T314P
c.940A>C
11 papers
NM_024301.5
p.T314M
c.941C>T
1 paper
NM_024301.5
p.P316_C317insFs
c.948_949insC
10 papers
NM_024301.5
p.E310*
c.928G>T
11 papers
NM_024301.5
p.P316delFs
c.948delC
5 papers
NM_024301.5
p.P315T
c.943C>A
2 papers
NM_024301.5
p.P315S
c.943C>T
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