Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V156A

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.V156A
c.467T>C
Surrounding Variants
4 papers
NM_024301.5
p.A157P
c.469G>C
1 paper
NM_024301.5
p.A157V
c.470C>T
1 paper
NM_024301.5
p.L155Q
c.464T>A
1 paper
NM_024301.5
p.L155_V156ins5
c.463_467ins15
1 paper
NM_024301.5
p.R154L
c.461G>T
1 paper
NM_024301.5
p.A158A
c.474C>G
2 papers
NM_024301.5
p.A153T
c.457G>A
1 paper
NM_024301.5
p.S152R
c.456C>A
1 paper
NM_024301.5
p.S152R
c.456C>G
4 papers
NM_024301.5
p.V160F
c.478G>T
1 paper
NM_024301.5
p.S152N
c.455G>A
1 paper
NM_024301.5
p.S152R
c.454A>C
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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."