Varaico: Literature-Extracted Genetic Variants

Gene:PDCD1
Variant:p.E247K

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.E247K
c.739G>A
Surrounding Variants
1 paper
NM_005018.3
p.T246T
c.738G>A
1 paper
NM_005018.3
p.E236_T246del11
c.706_737del33
5 papers
NM_005018.3
p.Y248F
c.743A>T
1 paper
NM_005018.3
p.Y248S
c.743A>C
1 paper
NM_005018.3
p.A249T
c.745G>A
1 paper
NM_005018.3
p.A249D
c.746C>A
1 paper
NM_005018.3
p.I251fs
c.751_752fs
1 paper
NM_005018.3
p.I251T
c.752T>C
2 papers
NM_005018.3
p.I251N
c.752T>A
1 paper
NM_005018.3
p.C241W
c.723T>G
1 paper
NM_005018.3
p.V252D
c.755T>A
1 paper
NM_005018.3
p.C241R
c.721T>C
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