Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V372del1

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
2 papers
NM_024301.5
p.V372del1
c.1114_1116delGTG
Surrounding Variants
1 paper
NM_024301.5
p.D371E
c.1113C>A
1 paper
NM_024301.5
p.D371E
c.1113C>G
1 paper
NM_024301.5
p.V372G
c.1115T>G
3 papers
NM_024301.5
p.L369insFs
c.1106_1107insT
2 papers
NM_024301.5
p.C375S
c.1123T>A
1 paper
NM_024301.5
p.C375_E376insFs
c.1124_1127dup4
2 papers
NM_024301.5
p.C375S
c.1124G>C
6 papers
NM_024301.5
p.I367T
c.1100T>C
1 paper
NM_024301.5
p.L378L
c.1132C>T
2 papers
NM_024301.5
p.D364A
c.1091A>C
3 papers
NM_024301.5
p.R379insFs
c.1136dupG
2 papers
NM_024301.5
p.R379fs
c.1135_1136fs
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