Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R48_V49insFs

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.R48_V49insFs
c.143_146dup4
Surrounding Variants
1 paper
NM_024301.5
p.P47S
c.139C>T
1 paper
NM_024301.5
p.P47_R48del1
c.140_142delCCC
1 paper
NM_024301.5
p.T50fs
c.148_149fs
10 papers
NM_024301.5
p.A45A
c.135C>T
2 papers
NM_024301.5
p.A45V
c.134C>T
2 papers
NM_024301.5
p.A45T
c.133G>A
3 papers
NM_024301.5
p.V51F
c.151G>T
1 paper
NM_024301.5
p.A44V
c.131C>T
1 paper
NM_024301.5
p.L52fs
c.154_155fs
3 papers
NM_024301.5
p.V53_R54insFs
c.158_162dup5
1 paper
NM_024301.5
p.V53M
c.157G>A
1 paper
NM_024301.5
p.V53G
c.158T>G
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