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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD180

Variant:p.A16A

CD180

50 papers

RefSeq Summary

CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell ...

Pfam Domains

LRR_11aa 221–249UCSCLeucine-rich repeat

LRR_8aa 321–382UCSCLeucine rich repeat

LRR_8aa 496–546UCSCLeucine rich repeat

Gene Aliases

HGNC Name

CD180 molecule

HGNC Previous Symbol

LY64

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:67196594 G>A

NM_005582.3

p.A16A

c.48C>T

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=3, hom=0)79 overlapping SVs

Surrounding Variants

1 paper

chr5:67196588 A>C

NM_005582.3

p.C18W

c.54T>G

exact variant not in gnomAD79 overlapping SVs

1 paper

chr5:67196584 C>G

NM_005582.3

p.V20L

c.58G>C

Exome: 9.7% (AC=141296, hom=7582)Genome: 7.1% (AC=10855, hom=553)79 overlapping SVs

1 paper

chr5:67196637 G>GC

NM_005582.3

p.M1insFs

c.3dupG

exact variant not in gnomAD79 overlapping SVs

1 paper

chr5:67194265 T>C

NM_005582.3

p.E30_K31Splc

c.90+2287A>G

Exome: n/aGenome: 24.2% (AC=36765, hom=7180)79 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."