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

1–12 of 77 variants

5 papers

NM_000733.4

p.L58delFs

c.173delT

3 papers

NM_000733.4

p.P35Splc

c.103+1G>A

3 papers

NM_000733.4

p.G174Splc

c.520+2T>C

2 papers

NM_000733.4

p.M1T

c.2T>C

2 papers

NM_000733.4

p.S39C

c.116C>G

2 papers

NM_000733.4

p.W59*

c.176G>A

2 papers

NM_000733.4

p.W59*

c.177G>A

2 papers

NM_000733.4

p.G68C

c.202G>T

2 papers

NM_000733.4

p.D71N

c.211G>A

2 papers

NM_000733.4

p.R117S

c.351A>C

2 papers

NM_000733.4

p.R117S

c.351A>T

2 papers

NM_000733.4

p.G142delFs

c.424delG