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.W270R

c.808T>C

Surrounding Variants

1 paper

NM_003919.3

p.W270R

c.808T>A

3 papers

NM_003919.3

p.W270*

c.809G>A

5 papers

NM_003919.3

p.W270*

c.810G>A

6 papers

NM_003919.3

p.C271Y

c.812G>A

1 paper

NM_003919.3

p.Q265delFs

c.795delT

1 paper

NM_003919.3

p.S274*

c.821C>G

1 paper

NM_003919.3

p.S274*

c.821C>A

1 paper

NM_003919.3

p.Q265*

c.793C>T

1 paper

NM_003919.3

p.L275*

c.824T>A

2 papers

NM_003919.3

p.L275_V276Splc

c.825+1G>T

3 papers

NM_003919.3

p.L275_V276Splc

c.825+1G>C

2 papers

NM_003919.3

p.L275_V276Splc

c.825+1G>A