Varaico: Literature-Extracted Genetic Variants

SGCE

195 papers

RefSeq Summary

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to...

Pfam Domains

Sarcoglycan_2aa 25–111UCSCSarcoglycan alpha/epsilon N-terminal domain

Sarcoglycan_2aa 85–188UCSCSarcoglycan alpha/epsilon N-terminal domain

Sarcoglycan_2_Caa 193–313UCSCSarcoglycan alpha/epsilon second domain

Gene Aliases

HGNC Name

sarcoglycan epsilon

HGNC Previous Symbol

DYT11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_003919.3

p.C258*

c.774T>A

Surrounding Variants

1 paper

NM_003919.3

p.V255_C258del0

c.765_773del9

8 papers

NM_003919.3

p.T257_C258delFs

c.771_772delAT

1 paper

NM_003919.3

p.C258_D259delFs

c.774_775delCA

1 paper

NM_003919.3

p.K260*

c.778A>T

3 papers

NM_003919.3

p.T257P

c.769A>C

3 papers

NM_003919.3

p.K261insFs

c.783dupA

4 papers

NM_003919.3

p.K261delFs

c.783delT

1 paper

NM_003919.3

p.R263fs

c.787_788fs

1 paper

NM_003919.3

p.F262delFs

c.786delA

1 paper

NM_003919.3

p.Q265*

c.793C>T

1 paper

NM_003919.3

p.Q265delFs

c.795delT

1 paper

NM_003919.3

p.C248_S249insFs

c.742_745dup4