Varaico: Literature-Extracted Genetic Variants

CD3E

97 papers

RefSeq Summary

The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell rece...

Pfam Domains

Ig_5aa 36–127UCSCIg-like domain on T-cell surface glycoprotein CD3 epsilon chain

ITAMaa 185–204UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

CD3 epsilon subunit of T-cell receptor complex

HGNC Alias Symbols

CD3epsilon; CD3-epsilon

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000733.4

p.D137G

c.410A>G

Surrounding Variants

1 paper

NM_000733.4

p.D137_I138insFs

c.411_412insC

1 paper

NM_000733.4

p.I135M

c.405A>G

2 papers

NM_000733.4

p.G142delFs

c.424delG

1 paper

NM_000733.4

p.G142E

c.425G>A

1 paper

NM_000733.4

p.L146_V148insFs

c.438_444dup7

1 paper

NM_000733.4

p.W151*

c.452G>A

1 paper

NM_000733.4

p.W151*

c.453G>A

1 paper

NM_000733.4

p.W151C

c.453G>C

1 paper

NM_000733.4

p.W151C

c.453G>T

1 paper

NM_000733.4

p.K153T

c.458A>C

1 paper

NM_000733.4

p.V118Splc

c.353-2A>C

2 papers

NM_000733.4

p.A157V

c.470C>T