Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.C191S

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.C191S
c.572G>C
Surrounding Variants
2 papers
NM_024301.5
p.C191S
c.571T>A
1 paper
NM_024301.5
p.R190C
c.568C>T
1 paper
NM_024301.5
p.P189P
c.567C>T
1 paper
NM_024301.5
p.P189L
c.566C>T
1 paper
NM_024301.5
p.P189A
c.565C>G
1 paper
NM_024301.5
p.P189fs
c.565_566fs
2 papers
NM_024301.5
p.L194P
c.581T>C
1 paper
NM_024301.5
p.A188S
c.562G>T
1 paper
NM_024301.5
p.P189_R190delFs
c.566_570del5
1 paper
NM_024301.5
p.D195G
c.584A>G
1 paper
NM_024301.5
p.A187G
c.560C>G
1 paper
NM_024301.5
p.A187V
c.560C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."