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.Y96C

c.287A>G

Surrounding Variants

1 paper

NM_000733.4

p.Y96*

c.288T>A

1 paper

NM_000733.4

p.Y96*

c.288T>G

1 paper

NM_000733.4

p.L90*

c.269T>A

1 paper

NM_000733.4

p.E79E

c.237G>A

1 paper

NM_000733.4

p.Y113C

c.338A>G

2 papers

NM_000733.4

p.R117S

c.351A>C

2 papers

NM_000733.4

p.R117S

c.351A>T

1 paper

NM_000733.4

p.V118Splc

c.352+1G>A

1 paper

NM_000733.4

p.V118Splc

c.352+2T>G

1 paper

NM_000733.4

p.K73R

c.218A>G

1 paper

NM_000733.4

p.D72D

c.216T>C

1 paper

NM_000733.4

p.D72N

c.214G>A