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

2 papers

NM_000733.4

p.D71N

c.211G>A

Surrounding Variants

1 paper

NM_000733.4

p.D71H

c.211G>C

1 paper

NM_000733.4

p.D71V

c.212A>T

1 paper

NM_000733.4

p.D72N

c.214G>A

1 paper

NM_000733.4

p.E70*

c.208G>T

1 paper

NM_000733.4

p.D72D

c.216T>C

1 paper

NM_000733.4

p.K73R

c.218A>G

2 papers

NM_000733.4

p.G68C

c.202G>T

1 paper

NM_000733.4

p.E79E

c.237G>A

1 paper

NM_000733.4

p.G68_G76del0

c.202_228del27

2 papers

NM_000733.4

p.W59*

c.177G>A

2 papers

NM_000733.4

p.W59*

c.176G>A

1 paper

NM_000733.4

p.W59R

c.175T>A