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

4 papers

NM_003919.3

p.R207delFs

c.619_620delCT

Surrounding Variants

1 paper

NM_003919.3

p.G208fs

c.622_623fs

2 papers

NM_003919.3

p.G208S

c.622G>A

2 papers

NM_003919.3

p.R207delFs

c.619delT

2 papers

NM_003919.3

p.R207fs

c.619_620fs

1 paper

NM_003919.3

p.G208delFs

c.623delC

5 papers

NM_003919.3

p.G209insFs

c.625_626insG

1 paper

NM_003919.3

p.R210fs

c.628_629fs

1 paper

NM_003919.3

p.R207_G209insFs

c.620_627dup8

1 paper

NM_003919.3

p.P214S

c.640C>T

1 paper

NM_003919.3

p.L213insFs

c.639dupT

1 paper

NM_003919.3

p.N216H

c.646A>C

1 paper

NM_003919.3

p.A198_I199ins7

c.592_596ins21