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.Q15delFs

c.43_44delTG

Surrounding Variants

1 paper

NM_198053.3

p.Q15K

c.43C>A

1 paper

NM_198053.3

p.A14V

c.41C>T

1 paper

NM_198053.3

p.L12P

c.35T>C

1 paper

NM_198053.3

p.T19I

c.56C>T

1 paper

NM_198053.3

p.E20Splc

c.58+5G>A

5 papers

NM_198053.3

p.E20Splc

c.58+8C>T

1 paper

NM_198053.3

p.A5V

c.14C>T

1 paper

NM_198053.3

p.M1I

c.3G>T

1 paper

NM_198053.3

p.M1I

c.3G>C

1 paper

NM_198053.3

p.M1I

c.3G>A

6 papers

NM_198053.3

p.M1T

c.2T>C