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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_000733.4

p.M1V

c.1A>G

1 paper

NM_000733.4

p.S3S

c.9G>A

1 paper

NM_000733.4

p.L15*

c.44T>A

1 paper

NM_000733.4

p.L15*

c.44T>G

1 paper

NM_000733.4

p.S16P

c.46T>C

1 paper

NM_000733.4

p.G18G

c.54C>T

1 paper

NM_000733.4

p.W20fs

c.58_59fs

1 paper

NM_000733.4

p.G24Splc

c.70+1G>A

1 paper

NM_000733.4

p.G24Splc

c.70+2T>A

1 paper

NM_000733.4

p.G24Splc

c.70+2T>G

1 paper

NM_000733.4

p.G29S

c.85G>A

3 papers

NM_000733.4

p.P35Splc

c.103+1G>A