Varaico: Literature-Extracted Genetic Variants

Gene:PDCD1
Variant:p.C54R

PDCD1

538 papers

RefSeq Summary

Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells....

Pfam Domains

V-setaa 37–145UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

programmed cell death 1

HGNC Previous Symbol

SLEB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005018.3
p.C54R
c.160T>C
Surrounding Variants
2 papers
NM_005018.3
p.S57P
c.169T>C
1 paper
NM_005018.3
p.A50delFs
c.149delG
1 paper
NM_005018.3
p.A50A
c.150C>G
2 papers
NM_005018.3
p.A50D
c.149C>A
2 papers
NM_005018.3
p.A50T
c.148G>A
2 papers
NM_005018.3
p.N58D
c.172A>G
1 paper
NM_005018.3
p.N58_T59insG
c.172_176ins3
1 paper
NM_005018.3
p.N58I
c.173A>T
1 paper
NM_005018.3
p.N58S
c.173A>G
3 papers
NM_005018.3
p.N49I
c.146A>T
1 paper
NM_005018.3
p.N49S
c.146A>G
1 paper
NM_005018.3
p.N49Y
c.145A>T
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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."