Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.Y182C

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
29 papers
NM_024301.5
p.Y182C
c.545A>G
Surrounding Variants
1 paper
NM_024301.5
p.Y182F
c.545A>T
2 papers
NM_024301.5
p.Y182H
c.544T>C
1 paper
NM_024301.5
p.R181R
c.543C>A
1 paper
NM_024301.5
p.R181R
c.543C>G
1 paper
NM_024301.5
p.R181R
c.543C>T
1 paper
NM_024301.5
p.A184delFs
c.550delG
1 paper
NM_024301.5
p.A184V
c.551C>T
3 papers
NM_024301.5
p.P186insFs
c.558dupC
1 paper
NM_024301.5
p.A185V
c.554C>T
2 papers
NM_024301.5
p.A180_R190insFs
c.540_570dup31
6 papers
NM_024301.5
p.W178C
c.534G>C
8 papers
NM_024301.5
p.W178C
c.534G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."