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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LBR

LBR

135 papers

RefSeq Summary

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate in...

Pfam Domains

LBR_tudoraa 1–55UCSCLamin-B receptor of TUDOR domain

ERG4_ERG24aa 183–615UCSCErgosterol biosynthesis ERG4/ERG24 family

Gene Aliases

HGNC Name

lamin B receptor

HGNC Alias Symbols

DHCR14B; TDRD18

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 150 variants

16 papers

chr1:225403403 C>T

NM_002296.4

p.R583Q

c.1748G>A

ERG4_ERG24

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)82 overlapping SVs

14 papers

chr1:225404452 T>C

NM_002296.4

p.N547D

c.1639A>G

ERG4_ERG24

Exome: 0.0% (AC=4, hom=0)Genome: n/a82 overlapping SVs

12 papers

chr1:225403394 C>T

NM_002296.4

p.R586H

c.1757G>A

ERG4_ERG24

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=4, hom=0)82 overlapping SVs

10 papers

chr1:225411411 G>A

NM_002296.4

p.R372C

c.1114C>T

ERG4_ERG24

Exome: 0.0% (AC=362, hom=2)Genome: 0.0% (AC=32, hom=0)81 overlapping SVs

8 papers

chr1:225419442 C>T

NM_002296.4

p.S154N

c.461G>A

Exome: 82.5% (AC=1202186, hom=500696)Genome: 72.9% (AC=110989, hom=43287)81 overlapping SVs

8 papers

chr1:225411396 G>A

NM_002296.4

p.R377*

c.1129C>T

ERG4_ERG24

Exome: 0.0% (AC=3, hom=0)Genome: n/a81 overlapping SVs

7 papers

chr1:225422087 G>A

NM_002296.4

p.P119L

c.356C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)81 overlapping SVs

7 papers

chr1:225404655 C>T

NM_002296.4

p.R512Q

c.1535G>A

ERG4_ERG24

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=4, hom=0)82 overlapping SVs

7 papers

chr1:225404451 T>C

NM_002296.4

p.N547S

c.1640A>G

ERG4_ERG24

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=6, hom=0)82 overlapping SVs

6 papers

chr1:225406781 G>C

NM_002296.4

p.L456V

c.1366C>G

ERG4_ERG24

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)82 overlapping SVs

6 papers

chr1:225404656 G>A

NM_002296.4

p.R512W

c.1534C>T

ERG4_ERG24

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)82 overlapping SVs

6 papers

chr1:225403445 G>C

NM_002296.4

p.P569R

c.1706C>G

ERG4_ERG24

exact variant not in gnomAD82 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."