Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R205L

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.R205L
c.614G>T
Surrounding Variants
2 papers
NM_024301.5
p.D206_F208del3
c.616_623del9
1 paper
NM_024301.5
p.A204_D206del3
c.610_617del9
2 papers
NM_024301.5
p.L207P
c.620T>C
1 paper
NM_024301.5
p.L207R
c.620T>G
1 paper
NM_024301.5
p.R203C
c.607C>T
1 paper
NM_024301.5
p.L202L
c.606G>A
4 papers
NM_024301.5
p.L202Q
c.605T>A
1 paper
NM_024301.5
p.L201P
c.602T>C
1 paper
NM_024301.5
p.L210V
c.628C>G
1 paper
NM_024301.5
p.V200delFs
c.599delT
1 paper
NM_024301.5
p.V200fs
c.598_599fs
2 papers
NM_024301.5
p.V200_A204del0
c.598_612del15
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