Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.G391fs

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.G391fs
c.1171_1172fs
Surrounding Variants
2 papers
NM_024301.5
p.G391S
c.1171G>A
1 paper
NM_024301.5
p.F392V
c.1174T>G
5 papers
NM_024301.5
p.R390_G391delFs
c.1170_1171delCG
1 paper
NM_024301.5
p.E389*
c.1165G>T
1 paper
NM_024301.5
p.W394L
c.1181G>T
2 papers
NM_024301.5
p.K396insFs
c.1187dupA
1 paper
NM_024301.5
p.V386L
c.1156G>T
6 papers
NM_024301.5
p.S385*
c.1154C>A
1 paper
NM_024301.5
p.A397fs
c.1189_1190fs
1 paper
NM_024301.5
p.S385delFs
c.1153delT
1 paper
NM_024301.5
p.V398V
c.1194C>T
3 papers
NM_024301.5
p.D401N
c.1201G>A
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