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

2 papers

NM_003919.3

p.L175S

c.524T>C

Surrounding Variants

1 paper

NM_003919.3

p.M174delFs

c.521delA

2 papers

NM_003919.3

p.M174K

c.521T>A

2 papers

NM_003919.3

p.S177C

c.529A>T

1 paper

NM_003919.3

p.L175_S177delFs

c.524_531del8

1 paper

NM_003919.3

p.E178D

c.534G>T

1 paper

NM_003919.3

p.E178D

c.534G>C

1 paper

NM_003919.3

p.F183fs

c.547_548fs

1 paper

NM_003919.3

p.N168_D182del15

c.502_545del45

6 papers

NM_003919.3

p.L184P

c.551T>C

2 papers

NM_003919.3

p.F183_L184delFs

c.549_552del4

1 paper

NM_003919.3

p.A186T

c.556G>A

1 paper

NM_003919.3

p.F164S

c.491T>C