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

7 papers

NM_003919.3

p.H60R

c.179A>G

Surrounding Variants

9 papers

NM_003919.3

p.H60P

c.179A>C

1 paper

NM_003919.3

p.V56_V61del0

c.168_182del15

1 paper

NM_003919.3

p.F58L

c.174T>G

1 paper

NM_003919.3

p.F58L

c.174T>A

1 paper

NM_003919.3

p.F58S

c.173T>C

1 paper

NM_003919.3

p.F58L

c.172T>C

1 paper

NM_003919.3

p.L62del1

c.184_185delCAA

2 papers

NM_003919.3

p.L57R

c.170T>G

2 papers

NM_003919.3

p.G55delFs

c.164delC

3 papers

NM_003919.3

p.E65*

c.193G>T

1 paper

NM_003919.3

p.Y66_F67insFs

c.198_199ins7

1 paper

NM_003919.3

p.S53*

c.158C>G