Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L276I

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
282 papers
NM_024301.5
p.L276I
c.826C>A
Surrounding Variants
2 papers
NM_024301.5
p.L276L
c.826C>T
1 paper
NM_024301.5
p.R275R
c.825C>A
1 paper
NM_024301.5
p.L276_V277ins1
c.828_829insTCC
1 paper
NM_024301.5
p.R275S
c.823C>A
5 papers
NM_024301.5
p.R275G
c.823C>G
9 papers
NM_024301.5
p.R275C
c.823C>T
2 papers
NM_024301.5
p.I274M
c.822C>G
1 paper
NM_024301.5
p.G273S
c.817G>A
2 papers
NM_024301.5
p.W279*
c.836G>A
2 papers
NM_024301.5
p.W279*
c.837G>A
1 paper
NM_024301.5
p.E280Q
c.838G>C
1 paper
NM_024301.5
p.R270H
c.809G>A
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