Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.I367T

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
6 papers
NM_024301.5
p.I367T
c.1100T>C
Surrounding Variants
3 papers
NM_024301.5
p.L369insFs
c.1106_1107insT
2 papers
NM_024301.5
p.D364A
c.1091A>C
1 paper
NM_024301.5
p.V363G
c.1088T>G
1 paper
NM_024301.5
p.D371E
c.1113C>A
1 paper
NM_024301.5
p.D371E
c.1113C>G
2 papers
NM_024301.5
p.V372del1
c.1114_1116delGTG
2 papers
NM_024301.5
p.V363L
c.1087G>C
2 papers
NM_024301.5
p.V363L
c.1087G>T
1 paper
NM_024301.5
p.D362E
c.1086C>A
2 papers
NM_024301.5
p.D362A
c.1085A>C
1 paper
NM_024301.5
p.V372G
c.1115T>G
2 papers
NM_024301.5
p.D360A
c.1079A>C
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