Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R110W

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
8 papers
NM_024301.5
p.R110W
c.328C>T
Surrounding Variants
1 paper
NM_024301.5
p.R110Q
c.329G>A
1 paper
NM_024301.5
p.R110P
c.329G>C
1 paper
NM_024301.5
p.P111S
c.331C>T
1 paper
NM_024301.5
p.D109N
c.325G>A
1 paper
NM_024301.5
p.L108L
c.324G>A
1 paper
NM_024301.5
p.A107V
c.320C>T
1 paper
NM_024301.5
p.A113V
c.338C>T
1 paper
NM_024301.5
p.P106H
c.317C>A
1 paper
NM_024301.5
p.A114T
c.340G>A
14 papers
NM_024301.5
p.A114G
c.341C>G
3 papers
NM_024301.5
p.A114V
c.341C>T
1 paper
NM_024301.5
p.S115L
c.344C>T
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