Varaico: Literature-Extracted Genetic Variants

Gene:CD27
Variant:p.D250del1

CD27

335 papers

RefSeq Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays ...

Pfam Domains

TNFR_c6aa 65–104UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

CD27 molecule

HGNC Previous Symbol

TNFRSF7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001242.5
p.D250del1
c.748_750delGAT
Surrounding Variants
1 paper
NM_001242.5
p.K253N
c.759A>C
1 paper
NM_001242.5
p.K253N
c.759A>T
1 paper
NM_001242.5
p.I245fs
c.733_734fs
1 paper
NM_001242.5
p.I245delFs
c.733delA
1 paper
NM_001242.5
p.A257delFs
c.771delC
1 paper
NM_001242.5
p.A257V
c.770C>T
1 paper
NM_001242.5
p.E240G
c.719A>G
1 paper
NM_001242.5
p.P260S
c.778C>T
1 paper
NM_001242.5
p.P260L
c.779C>T
1 paper
NM_001242.5
p.E239K
c.715G>A
1 paper
NM_001242.5
p.E239*
c.715G>T
2 papers
NM_001242.5
p.R238K
c.713G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."