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.S39P

c.115T>C

Surrounding Variants

2 papers

NM_000733.4

p.S39C

c.116C>G

1 paper

NM_000733.4

p.Y36Y

c.108T>C

1 paper

NM_000733.4

p.T43fs

c.127_128fs

1 paper

NM_000733.4

p.T44S

c.130A>T

1 paper

NM_000733.4

p.V45L

c.133G>T

1 paper

NM_000733.4

p.C49S

c.145T>A

1 paper

NM_000733.4

p.C49R

c.145T>C

1 paper

NM_000733.4

p.C49S

c.146G>C

5 papers

NM_000733.4

p.L58delFs

c.173delT

1 paper

NM_000733.4

p.L58fs

c.172_173fs

1 paper

NM_000733.4

p.W59R

c.175T>A

1 paper

NM_000733.4

p.W59R

c.175T>C