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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLRC3

Variant:p.E69E

KLRC3

28 papers

RefSeq Summary

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated ...

Pfam Domains

Lectin_Caa 134–226UCSCLectin C-type domain

Gene Aliases

HGNC Name

killer cell lectin like receptor C3

HGNC Alias Symbol

NKG2-E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:10419945 T>C

NM_002261.3

p.E69E

c.207A>G

Exome: 99.2% (AC=381577, hom=190529)Genome: 98.2% (AC=90430, hom=44487)17 overlapping SVs

Surrounding Variants

1 paper

chr12:10419883 G>T

NM_002261.3

p.T90K

c.269C>A

exact variant not in gnomAD17 overlapping SVs

1 paper

chr12:10420383 A>G

NM_002261.3

p.D56D

c.168T>C

Exome: 99.9% (AC=1459275, hom=728637)Genome: 98.6% (AC=150068, hom=74020)16 overlapping SVs

2 papers

chr12:10420495 C>G

NM_002261.3

p.W19S

c.56G>C

Exome: 51.8% (AC=745254, hom=117378)Genome: 53.7% (AC=77988, hom=22714)16 overlapping SVs

1 paper

chr12:10420496 A>G

NM_002261.3

p.W19R

c.55T>C

Exome: 99.9% (AC=1457834, hom=728263)Genome: 98.6% (AC=146420, hom=72217)16 overlapping SVs

1 paper

chr12:10420496 A>T

NM_002261.3

p.W19R

c.55T>A

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=0, hom=0)16 overlapping SVs

3 papers

chr12:10420546 C>T

NM_002261.3

p.S2N

c.5G>A

Exome: 70.9% (AC=987155, hom=291638)Genome: 95.4% (AC=122150, hom=58154)16 overlapping SVs

3 papers

chr12:10419059 C>T

NM_002261.3

p.A106T

c.316G>A

Exome: 98.9% (AC=174012, hom=86857)Genome: 97.6% (AC=55118, hom=27033)17 overlapping SVs

1 paper

chr12:10419051 G>C

NM_002261.3

p.T108T

c.324C>G

Exome: 98.8% (AC=176001, hom=87850)Genome: 97.7% (AC=59733, hom=29317)17 overlapping SVs

3 papers

chr12:10418492 T>G

NM_002261.3

p.H113P

c.338A>C

Exome: 99.7% (AC=1425769, hom=711021)Genome: 98.5% (AC=150005, hom=73907)18 overlapping SVs

1 paper

chr12:10418458 A>C

NM_002261.3

p.Y124*

c.372T>G

Exome: n/aGenome: 0.0% (AC=0, hom=0)18 overlapping SVs

1 paper

chr12:10418458 A>T

NM_002261.3

p.Y124*

c.372T>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)18 overlapping SVs

1 paper

chr12:10418443 A>G

NM_002261.3

p.Y129Y

c.387T>C

Exome: 99.8% (AC=1454257, hom=725656)Genome: 98.6% (AC=150133, hom=74034)18 overlapping SVs

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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."