Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R143S

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
11 papers
NM_024301.5
p.R143S
c.427C>A
Surrounding Variants
2 papers
NM_024301.5
p.R143C
c.427C>T
1 paper
NM_024301.5
p.R143H
c.428G>A
1 paper
NM_024301.5
p.M144V
c.430A>G
1 paper
NM_024301.5
p.E142K
c.424G>A
2 papers
NM_024301.5
p.R143_E146del0
c.427_438del12
1 paper
NM_024301.5
p.E146*
c.436G>T
1 paper
NM_024301.5
p.E146A
c.437A>C
1 paper
NM_024301.5
p.L140_E142del3
c.418_425del9
1 paper
NM_024301.5
p.A147T
c.439G>A
2 papers
NM_024301.5
p.L148P
c.443T>C
1 paper
NM_024301.5
p.R149_A150delFs
c.446_450del5
3 papers
NM_024301.5
p.A137T
c.409G>A
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