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

1 paper

NM_003919.3

p.D96fs

c.286_287fs

Surrounding Variants

1 paper

NM_003919.3

p.D96N

c.286G>A

1 paper

NM_003919.3

p.P95delFs

c.285delT

21 papers

NM_003919.3

p.R97*

c.289C>T

1 paper

NM_003919.3

p.R97Q

c.290G>A

2 papers

NM_003919.3

p.M92delFs

c.276delC

3 papers

NM_003919.3

p.M92T

c.275T>C

3 papers

NM_003919.3

p.W100G

c.298T>G

2 papers

NM_003919.3

p.W100*

c.299G>A

2 papers

NM_003919.3

p.L91*

c.272T>G

1 paper

NM_003919.3

p.L91*

c.272T>A

3 papers

NM_003919.3

p.W100*

c.300G>A

28 papers

NM_003919.3

p.R102*

c.304C>T