Varaico: Literature-Extracted Genetic Variants

CD3D

76 papers

RefSeq Summary

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the...

Pfam Domains

Ig_4aa 30–99UCSCT-cell surface glycoprotein CD3 delta chain

ITAMaa 146–165UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

CD3 delta subunit of T-cell receptor complex

HGNC Previous Symbol

T3D

Papers

RefSeq ID

Protein change

DNA change

1–12 of 44 variants

16 papers

NM_000732.6

p.R68*

c.202C>T

4 papers

NM_000732.6

p.M92Splc

c.274+5G>A

4 papers

NM_000732.6

p.C93*

c.279C>A

4 papers

NM_000732.6

p.Q147R

c.440A>G

2 papers

NM_000732.6

p.M1T

c.2T>C

2 papers

NM_000732.6

p.W43*

c.128G>A

2 papers

NM_000732.6

p.W43*

c.129G>A

2 papers

NM_000732.6

p.E83*

c.247G>T

2 papers

NM_000732.6

p.M92Splc

c.275-2A>G

2 papers

NM_000732.6

p.M92T

c.275T>C

2 papers

NM_000732.6

p.V104M

c.310G>A

2 papers

NM_000732.6

p.Q140K

c.418C>A