Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.P78delins

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.P78delins
c.233_234delinsGA
Surrounding Variants
1 paper
NM_024301.5
p.P78L
c.233C>T
1 paper
NM_024301.5
p.P78P
c.234C>A
1 paper
NM_024301.5
p.V81del1
c.241_242delGTG
5 papers
NM_024301.5
p.V79M
c.235G>A
1 paper
NM_024301.5
p.V79L
c.235G>C
9 papers
NM_024301.5
p.Q77*
c.229C>T
1 paper
NM_024301.5
p.A76T
c.226G>A
1 paper
NM_024301.5
p.A76_Q77del2
c.226_230del6
1 paper
NM_024301.5
p.A82V
c.245C>T
1 paper
NM_024301.5
p.Q73R
c.218A>G
3 papers
NM_024301.5
p.Q73*
c.217C>T
3 papers
NM_024301.5
p.A83A
c.249C>T
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