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

5 papers

NM_198053.3

p.Q101*

c.301C>T

Surrounding Variants

1 paper

NM_198053.3

p.Q101P

c.302A>C

1 paper

NM_198053.3

p.P100_Q101Splc

c.301-2A>C

1 paper

NM_198053.3

p.R103K

c.308G>A

1 paper

NM_198053.3

p.G109C

c.325G>T

2 papers

NM_198053.3

p.N112_E113Splc

c.337-7T>C

1 paper

NM_198053.3

p.D117Y

c.349G>T

1 paper

NM_198053.3

p.R133W

c.397C>T

2 papers

NM_198053.3

p.G137_H138insFs

c.411_412insC

1 paper

NM_198053.3

p.D139Y

c.415G>T

1 paper

NM_000734.4

p.H137_D138insFs

c.411_412insC

1 paper

NM_198053.3

p.G140C

c.418G>T

1 paper

NM_198053.3

p.P100_Q101Splc

c.300+190A>G