Varaico: Literature-Extracted Genetic Variants

Gene:CD3G
Variant:p.D39H

CD3G

77 papers

RefSeq Summary

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

Pfam Domains

Ig_4aa 39–110UCSCT-cell surface glycoprotein CD3 delta chain
ITAMaa 157–176UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

CD3 gamma subunit of T-cell receptor complex

HGNC Alias Symbols

CD3-GAMMA; CD3GAMMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000073.3
p.D39H
c.115G>C
Surrounding Variants
1 paper
NM_000073.3
p.S41T
c.121T>A
1 paper
NM_000073.3
p.Y36*
c.108T>A
1 paper
NM_000073.3
p.Y36*
c.108T>G
1 paper
NM_000073.3
p.D35G
c.104A>G
1 paper
NM_000073.3
p.D35V
c.104A>T
1 paper
NM_000073.3
p.G27A
c.80G>C
7 papers
NM_000073.3
p.G27Splc
c.80-1G>C
1 paper
NM_000073.3
p.K51N
c.153A>T
1 paper
NM_000073.3
p.D68fs
c.202_203fs
1 paper
NM_000073.3
p.D68delFs
c.204delT
1 paper
NM_000073.3
p.K69insFs
c.205dupA
10 papers
NM_000073.3
p.K71delFs
c.213delA
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