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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD244

Variant:p.P41Q

CD244

137 papers

RefSeq Summary

This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between ...

Pfam Domains

Receptor_2B4aa 22–127UCSCNatural killer cell receptor 2B4

Gene Aliases

HGNC Name

CD244 molecule

HGNC Alias Symbols

2B4; NAIL; NKR2B4; SLAMF4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:160841841 G>T

NM_016382.4

p.P41Q

c.122C>A

Receptor_2B4

Exome: 0.0% (AC=8, hom=0)Genome: n/a229 overlapping SVs

Surrounding Variants

1 paper

chr1:160841842 G>A

NM_016382.4

p.P41S

c.121C>T

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841849 C>T

NM_016382.4

p.Q38Q

c.114G>A

Receptor_2B4

Exome: n/aGenome: 0.0% (AC=3, hom=0)229 overlapping SVs

2 papers

chr1:160841853 A>T

NM_016382.4

p.L37H

c.110T>A

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841855 A>T

NM_016382.4

p.P36P

c.108T>A

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841826 G>A

NM_016382.4

p.T46M

c.137C>T

Receptor_2B4

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=8, hom=0)229 overlapping SVs

1 paper

chr1:160841817 T>G

NM_016382.4

p.D49A

c.146A>C

Receptor_2B4

Exome: 0.0% (AC=1, hom=0)Genome: n/a229 overlapping SVs

1 paper

chr1:160841879 A>G

NM_016382.4

p.H28H

c.84T>C

Receptor_2B4

Exome: 0.3% (AC=4254, hom=17)Genome: 0.2% (AC=370, hom=1)229 overlapping SVs

1 paper

chr1:160841882 G>C

NM_016382.4

p.D27E

c.81C>G

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841882 G>T

NM_016382.4

p.D27E

c.81C>A

Receptor_2B4

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=2, hom=0)229 overlapping SVs

1 paper

chr1:160841800 T>C

NM_016382.4

p.K55E

c.163A>G

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841887 C>A

NM_016382.4

p.A26S

c.76G>T

Receptor_2B4

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:160841896 G>A

NM_016382.4

p.Q23*

c.67C>T

Receptor_2B4

Exome: 0.0% (AC=2, hom=0)Genome: n/a229 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."