Varaico: Literature-Extracted Genetic Variants

MYOF

184 papers

RefSeq Summary

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane p...

Pfam Domains

C2aa 1–103UCSCC2 domain

C2aa 199–302UCSCC2 domain

FerIaa 303–353UCSCFerI (NUC094) domain

C2aa 359–476UCSCC2 domain

FerAaa 677–741UCSCFerA (NUC095) domain

FerBaa 768–841UCSCFerB (NUC096) domain

Gene Aliases

HGNC Name

myoferlin

HGNC Previous Symbol

FER1L3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013451.4

p.R366*

c.1096C>T

Surrounding Variants

1 paper

NM_013451.4

p.R366L

c.1097G>T

1 paper

NM_013451.4

p.R366Q

c.1097G>A

1 paper

NM_013451.4

p.E368K

c.1102G>A

1 paper

NM_013451.4

p.D369delFs

c.1106delT

1 paper

NM_013451.4

p.Q372*

c.1114C>T

1 paper

NM_013451.4

p.Q372L

c.1115A>T

1 paper

NM_013451.4

p.A351delFs

c.1051delC

1 paper

NM_013451.4

p.P350delFs

c.1048_1049delGG

1 paper

NM_013451.4

p.E344Q

c.1030G>C

4 papers

NM_013451.4

p.D342N

c.1024G>A

1 paper

NM_013451.4

p.R334G

c.1000C>G

1 paper

NM_013451.4

p.E332Q

c.994G>C