Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V338M

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.V338M
c.1012G>A
Surrounding Variants
6 papers
NM_024301.5
p.V338L
c.1012G>C
6 papers
NM_024301.5
p.V338L
c.1012G>T
1 paper
NM_024301.5
p.R339G
c.1015C>G
6 papers
NM_024301.5
p.R339H
c.1016G>A
1 paper
NM_024301.5
p.R339P
c.1016G>C
3 papers
NM_024301.5
p.R339L
c.1016G>T
1 paper
NM_024301.5
p.Y340F
c.1019A>T
3 papers
NM_024301.5
p.Y340*
c.1020C>A
2 papers
NM_024301.5
p.Y340*
c.1020C>G
2 papers
NM_024301.5
p.W341*
c.1022G>A
2 papers
NM_024301.5
p.W341*
c.1023G>A
1 paper
NM_024301.5
p.E334K
c.1000G>A
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