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

6 papers

NM_003919.3

p.E130_I131Splc

c.391-3T>C

Surrounding Variants

1 paper

NM_003919.3

p.E130_I131Splc

c.391-1G>A

1 paper

NM_003919.3

p.Y134*

c.402C>G

1 paper

NM_003919.3

p.Y134*

c.402C>A

2 papers

NM_003919.3

p.I131_N135del0

c.391_405del15

2 papers

NM_003919.3

p.R137H

c.410G>A

2 papers

NM_003919.3

p.E130_I131Splc

c.391-43A>C

1 paper

NM_003919.3

p.I147_I148del1

c.441_443delATT

1 paper

NM_003919.3

p.I148delFs

c.444delA

4 papers

NM_003919.3

p.I148_N149delFs

c.444_447del4

1 paper

NM_003919.3

p.D155N

c.463G>A

1 paper

NM_003919.3

p.E130_I131Splc

c.391-79G>T

2 papers

NM_003919.3

p.D155Splc

c.463+1G>A