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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTN4R

RTN4R

71 papers

RefSeq Summary

This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulatin...

Pfam Domains

LRR_8aa 112–166UCSCLeucine rich repeat

LRR_8aa 156–214UCSCLeucine rich repeat

LRR_8aa 203–261UCSCLeucine rich repeat

Gene Aliases

HGNC Name

reticulon 4 receptor

HGNC Alias Symbol

NOGOR

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 67 variants

9 papers

chr22:20242546 C>T

NM_023004.6

p.R196H

c.587G>A

LRR_8

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=10, hom=0)7 overlapping SVs

7 papers

chr22:20242778 G>A

NM_023004.6

p.R119W

c.355C>T

LRR_8

Exome: 0.0% (AC=279, hom=0)Genome: 0.1% (AC=85, hom=0)7 overlapping SVs

4 papers

chr22:20241938 G>A

NM_023004.6

p.R399W

c.1195C>T

Exome: 0.0% (AC=415, hom=0)Genome: 0.0% (AC=37, hom=0)7 overlapping SVs

3 papers

chr22:20242930 C>T

NM_023004.6

p.R68H

c.203G>A

Exome: 0.0% (AC=92, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

3 papers

chr22:20242732 G>A

NM_023004.6

p.T134M

c.401C>T

LRR_8

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

3 papers

chr22:20242454 G>A

NM_023004.6

p.R227C

c.679C>T

LRR_8

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

3 papers

chr22:20242358 C>T

NM_023004.6

p.D259N

c.775G>A

LRR_8

Exome: 0.0% (AC=106, hom=0)Genome: 0.0% (AC=17, hom=0)7 overlapping SVs

3 papers

chr22:20242258 C>T

NM_023004.6

p.R292H

c.875G>A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

3 papers

chr22:20242093 A>C

NM_023004.6

p.L347R

c.1040T>G

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

3 papers

chr22:20242046 C>T

NM_023004.6

p.V363M

c.1087G>A

Exome: 0.0% (AC=196, hom=0)Genome: 0.0% (AC=24, hom=0)7 overlapping SVs

3 papers

chr22:20242004 G>A

NM_023004.6

p.R377W

c.1129C>T

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

2 papers

chr22:20242453 C>T

NM_023004.6

p.R227H

c.680G>A

LRR_8

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=7, hom=0)7 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."