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

2 papers

NM_003919.3

p.G112R

c.334G>A

Surrounding Variants

2 papers

NM_003919.3

p.G112R

c.334G>C

1 paper

NM_003919.3

p.S110I

c.329G>T

6 papers

NM_003919.3

p.Y115C

c.344A>G

1 paper

NM_003919.3

p.G116E

c.347G>A

2 papers

NM_003919.3

p.Q105R

c.314A>G

1 paper

NM_003919.3

p.A120fs

c.358_359fs

1 paper

NM_003919.3

p.E121ins1

c.361_362insCTG

1 paper

NM_003919.3

p.A120delFs

c.360delA

1 paper

NM_003919.3

p.R102P

c.305G>C

1 paper

NM_003919.3

p.R102Q

c.305G>A

28 papers

NM_003919.3

p.R102*

c.304C>T

3 papers

NM_003919.3

p.W100*

c.300G>A