Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A137T

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
3 papers
NM_024301.5
p.A137T
c.409G>A
Surrounding Variants
1 paper
NM_024301.5
p.A135D
c.404C>A
1 paper
NM_024301.5
p.A135insFs
c.404_405insT
1 paper
NM_024301.5
p.L140_E142del3
c.418_425del9
3 papers
NM_024301.5
p.R134W
c.400C>T
1 paper
NM_024301.5
p.R134_A135delFs
c.402_403delGG
1 paper
NM_024301.5
p.A133E
c.398C>A
1 paper
NM_024301.5
p.A133V
c.398C>T
2 papers
NM_024301.5
p.R143_E146del0
c.427_438del12
1 paper
NM_024301.5
p.E142K
c.424G>A
1 paper
NM_024301.5
p.D131E
c.393T>A
1 paper
NM_024301.5
p.D131E
c.393T>G
11 papers
NM_024301.5
p.R143S
c.427C>A
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