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.Y83Y

c.249C>T

Surrounding Variants

1 paper

NM_198053.3

p.Y83*

c.249C>G

1 paper

NM_198053.3

p.Y83*

c.249C>A

2 papers

NM_198053.3

p.D84G

c.251A>G

1 paper

NM_198053.3

p.R79*

c.235C>T

1 paper

NM_198053.3

p.L77P

c.230T>C

2 papers

NM_198053.3

p.R90C

c.268C>T

1 paper

NM_198053.3

p.N76S

c.227A>G

1 paper

NM_198053.3

p.G98R

c.292G>C

1 paper

NM_198053.3

p.G98R

c.292G>A

1 paper

NM_198053.3

p.P100L

c.299C>T

1 paper

NM_198053.3

p.P100_Q101Splc

c.300+190A>G

1 paper

NM_198053.3

p.L71I

c.211C>A