Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V398V

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.V398V
c.1194C>T
Surrounding Variants
1 paper
NM_024301.5
p.A397fs
c.1189_1190fs
3 papers
NM_024301.5
p.D401N
c.1201G>A
1 paper
NM_024301.5
p.D401G
c.1202A>G
2 papers
NM_024301.5
p.K396insFs
c.1187dupA
1 paper
NM_024301.5
p.W394L
c.1181G>T
2 papers
NM_024301.5
p.F403S
c.1208T>C
1 paper
NM_024301.5
p.F403_Q406delFs
c.1209_1218del10
1 paper
NM_024301.5
p.R404_V405insT
c.1210_1214ins3
1 paper
NM_024301.5
p.R404C
c.1210C>T
1 paper
NM_024301.5
p.R404R
c.1212C>T
1 paper
NM_024301.5
p.V405M
c.1213G>A
10 papers
NM_024301.5
p.V405L
c.1213G>C
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