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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MSRB1

MSRB1

8 papers

RefSeq Summary

The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catal...

Pfam Domains

SelRaa 5–105UCSCSelR domain

Gene Aliases

HGNC Name

methionine sulfoxide reductase B1

HGNC Previous Symbol

SEPX1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr16:1940858 T>A

NM_016332.4

p.H80L

c.239A>T

SelR

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:1943156 T>C

NM_016332.4

p.M1V

c.1A>G

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr16:1943132 C>T

NM_016332.4

p.G9S

c.25G>A

SelR

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:1941306 G>T

NM_016332.4

p.A52D

c.155C>A

SelR

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr16:1941285 G>A

NM_016332.4

p.P59L

c.176C>T

SelR

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr16:1940874 C>G

NM_016332.4

p.G75R

c.223G>C

SelR

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:1940874 C>T

NM_016332.4

p.G75S

c.223G>A

SelR

Exome: 0.0% (AC=5, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr16:1940845 G>A

NM_016332.4

p.N84N

c.252C>T

SelR

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=37, hom=0)6 overlapping SVs

1 paper

chr16:1940786 A>G

NM_016332.4

p.V104A

c.311T>C

SelR

exact variant not in gnomAD6 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."