Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.G331_V332insFs

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.G331_V332insFs
c.993_994insC
Surrounding Variants
1 paper
NM_024301.5
p.E334K
c.1000G>A
1 paper
NM_024301.5
p.E334*
c.1000G>T
7 papers
NM_024301.5
p.Y328S
c.983A>C
1 paper
NM_024301.5
p.R327R
c.981C>A
1 paper
NM_024301.5
p.A326_V332del0
c.977_994del18
2 papers
NM_024301.5
p.V338M
c.1012G>A
6 papers
NM_024301.5
p.V338L
c.1012G>C
6 papers
NM_024301.5
p.V338L
c.1012G>T
2 papers
NM_024301.5
p.E324Q
c.970G>C
1 paper
NM_024301.5
p.R339G
c.1015C>G
6 papers
NM_024301.5
p.R339H
c.1016G>A
4 papers
NM_024301.5
p.R323H
c.968G>A
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