Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.G345A

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.G345A
c.1034G>C
Surrounding Variants
1 paper
NM_024301.5
p.G345V
c.1034G>T
1 paper
NM_024301.5
p.S346*
c.1037C>A
1 paper
NM_024301.5
p.S346*
c.1037C>G
1 paper
NM_024301.5
p.S346L
c.1037C>T
1 paper
NM_024301.5
p.L347_L348insFs
c.1039_1043dup5
1 paper
NM_024301.5
p.G344C
c.1030G>T
1 paper
NM_024301.5
p.G344fs
c.1030_1031fs
1 paper
NM_024301.5
p.G344_L347delFs
c.1030_1039del10
1 paper
NM_024301.5
p.E343K
c.1027G>A
7 papers
NM_024301.5
p.E343Q
c.1027G>C
3 papers
NM_024301.5
p.E343*
c.1027G>T
1 paper
NM_024301.5
p.L342L
c.1026C>A
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