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

1–12 of 55 variants

6 papers

NM_198053.3

p.M1T

c.2T>C

5 papers

NM_198053.3

p.E20Splc

c.58+8C>T

5 papers

NM_198053.3

p.Q101*

c.301C>T

4 papers

NM_198053.3

p.Q70*

c.208C>T

2 papers

NM_198053.3

p.A21V

c.62C>T

2 papers

NM_198053.3

p.D84G

c.251A>G

2 papers

NM_198053.3

p.R90C

c.268C>T

2 papers

NM_198053.3

p.N112_E113Splc

c.337-7T>C

2 papers

NM_198053.3

p.G137_H138insFs

c.411_412insC

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