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.C248_S249insFs

c.742_745dup4

Surrounding Variants

2 papers

NM_003919.3

p.S249insFs

c.745_746ins4

2 papers

NM_003919.3

p.C248S

c.743G>C

2 papers

NM_003919.3

p.C248S

c.742T>A

2 papers

NM_003919.3

p.Q245_L246delFs

c.734_737del4

1 paper

NM_003919.3

p.Q245_L246delFs

c.733_737del5

1 paper

NM_003919.3

p.Q245fs

c.733_734fs

1 paper

NM_003919.3

p.Q245fs

c.733_734fs

2 papers

NM_003919.3

p.P242P

c.726A>T

3 papers

NM_003919.3

p.T257P

c.769A>C

8 papers

NM_003919.3

p.T257_C258delFs

c.771_772delAT

11 papers

NM_003919.3

p.C258*

c.774T>A

1 paper

NM_003919.3

p.V255_C258del0

c.765_773del9