Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD200R1

Variant:p.L16M

CD200R1

48 papers

RefSeq Summary

This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted ...

Pfam Domains

C2-set_2aa 172–249UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

CD200 receptor 1

HGNC Previous Symbol

MOX2R

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:112974812 A>T

NM_138806.4

p.L16M

c.46T>A

exact variant not in gnomAD70 overlapping SVs

Surrounding Variants

1 paper

chr3:112974805 A>G

NM_138806.4

p.I18T

c.53T>C

Exome: 0.6% (AC=8147, hom=38)Genome: 0.4% (AC=557, hom=1)70 overlapping SVs

2 papers

chr3:112974798 TAAG>T

NM_138806.4

p.F19_L20del1

c.57_59delAAG

Exome: 0.7% (AC=9510, hom=66)Genome: 0.4% (AC=677, hom=9)70 overlapping SVs

1 paper

chr3:112974797 CTAAGAA>C

NM_138806.4

p.F19_L20del2

c.55_59del6

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:112974837 AGT>A

NM_138806.4

p.T7delFs

c.19_20delGT

exact variant not in gnomAD70 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."