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_001099401.2

p.S432R

c.1294A>C

Surrounding Variants

1 paper

NM_001099401.2

p.S432R

c.1296C>G

1 paper

NM_001099401.2

p.S432R

c.1296C>A

1 paper

NM_003919.3

p.Q418Splc

c.1253+814G>A

2 papers

NM_003919.3

p.H391_N405del15

c.1171_1214del45

1 paper

NM_003919.3

p.D404delFs

c.1211_1212delGT

1 paper

NM_003919.3

p.P399L

c.1196C>T

1 paper

NM_003919.3

p.L384delFs

c.1151delA

1 paper

NM_003919.3

p.E379Q

c.1135G>C

7 papers

NM_003919.3

p.R372*

c.1114C>T

1 paper

NM_003919.3

p.E370Q

c.1108G>C

1 paper

NM_003919.3

p.D355Splc

c.1065-2A>G

1 paper

NM_003919.3

p.D355Splc

c.1065-42T>C