Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.Q28*

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.Q28*
c.82C>T
Surrounding Variants
1 paper
NM_024301.5
p.Q28E
c.82C>G
1 paper
NM_024301.5
p.L27L
c.79C>T
2 papers
NM_024301.5
p.W26*
c.78G>A
2 papers
NM_024301.5
p.W26*
c.77G>A
2 papers
NM_024301.5
p.Q30*
c.88C>T
2 papers
NM_024301.5
p.W26fs
c.76_77fs
2 papers
NM_024301.5
p.S25S
c.75G>A
1 paper
NM_024301.5
p.S25*
c.74C>A
2 papers
NM_024301.5
p.W26delFs
c.76_77delTG
1 paper
NM_024301.5
p.P31_R32del1
c.92_94delCTA
1 paper
NM_024301.5
p.S25_W26insC
c.73_77ins3
1 paper
NM_024301.5
p.S25_W26delFs
c.73_77del5
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."