Varaico: Literature-Extracted Genetic Variants

CD247

80 papers

RefSeq Summary

The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell recepto...

Pfam Domains

TCR_zetazetaaa 28–58UCSCT-cell surface glycoprotein CD3 zeta chain

ITAMaa 69–88UCSCImmunoreceptor tyrosine-based activation motif

ITAMaa 139–158UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

CD247 molecule

HGNC Previous Symbol

CD3Z

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198053.3

p.Y42H

c.124T>C

Surrounding Variants

1 paper

NM_198053.3

p.G37*

c.109G>T

1 paper

NM_198053.3

p.G37R

c.109G>C

1 paper

NM_198053.3

p.T47N

c.140C>A

1 paper

NM_198053.3

p.C32*

c.96C>A

1 paper

NM_198053.3

p.K54_F55Splc

c.162+2T>G

1 paper

NM_198053.3

p.F24C

c.71T>G

1 paper

NM_198053.3

p.A21A

c.63A>G

2 papers

NM_198053.3

p.A21V

c.62C>T

1 paper

NM_198053.3

p.S58R

c.174C>G

1 paper

NM_198053.3

p.Q68*

c.202C>T

1 paper

NM_198053.3

p.N69K

c.207C>G

1 paper

NM_198053.3

p.N69K

c.207C>A