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

Selected Variant

1 paper

NM_000732.6

p.T76I

c.227C>T

Surrounding Variants

1 paper

NM_000732.6

p.N74delins

c.221_222delinsTT

1 paper

NM_000732.6

p.Y71C

c.212A>G

2 papers

NM_000732.6

p.E83*

c.247G>T

16 papers

NM_000732.6

p.R68*

c.202C>T

1 paper

NM_000732.6

p.I64F

c.190A>T

1 paper

NM_000732.6

p.R91Q

c.272G>A

4 papers

NM_000732.6

p.M92Splc

c.274+5G>A

1 paper

NM_000732.6

p.S53*

c.158C>G

1 paper

NM_000732.6

p.S53*

c.158C>A

1 paper

NM_000732.6

p.T50S

c.148A>T

1 paper

NM_000732.6

p.G49A

c.146G>C

1 paper

NM_000732.6

p.G49E

c.146G>A