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

1–12 of 257 variants

28 papers

NM_003919.3

p.R102*

c.304C>T

21 papers

NM_003919.3

p.R97*

c.289C>T

11 papers

NM_003919.3

p.C258*

c.774T>A

10 papers

NM_003919.3

p.R237*

c.709C>T

9 papers

NM_003919.3

p.H60P

c.179A>C

8 papers

NM_003919.3

p.T257_C258delFs

c.771_772delAT

7 papers

NM_003919.3

p.H60R

c.179A>G

7 papers

NM_003919.3

p.R372*

c.1114C>T

6 papers

NM_003919.3

p.G78Splc

c.233-1G>A

6 papers

NM_003919.3

p.Y115C

c.344A>G

6 papers

NM_003919.3

p.E130_I131Splc

c.391-3T>C

6 papers

NM_003919.3

p.L184P

c.551T>C