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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD244

Variant:p.M1T

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

chr1:160862676 A>G

NM_016382.4

p.M1T

c.2T>C

exact variant not in gnomAD230 overlapping SVs

Surrounding Variants

1 paper

chr1:160862676 A>T

NM_016382.4

p.M1K

c.2T>A

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:160862675 C>T

NM_016382.4

p.M1I

c.3G>A

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:160862677 T>TG

NM_016382.4

p.M1Fs

c.1delinsCAFs

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:160862673 A>C

NM_016382.4

p.L2R

c.5T>G

Exome: 0.0% (AC=303, hom=0)Genome: 0.0% (AC=18, hom=0)230 overlapping SVs

1 paper

chr1:160862670 C>T

NM_016382.4

p.G3E

c.8G>A

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)230 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."