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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LILRA1

LILRA1

77 papers

RefSeq Summary

This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly ...

Pfam Domains

Ig_2aa 28–118UCSCImmunoglobulin domain

Ig_3aa 325–400UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leukocyte immunoglobulin like receptor A1

HGNC Alias Symbols

LIR-6; CD85i; LIR6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 82 variants

11 papers

chr19:54594823 A>C

NM_006863.4

p.I77L

c.229A>C

Ig_2

Exome: 0.0% (AC=414, hom=0)Genome: 0.0% (AC=41, hom=0)16 overlapping SVs

3 papers

chr19:54594931 C>T

NM_006863.4

p.P113S

c.337C>T

Ig_2

Exome: n/aGenome: 0.0% (AC=2, hom=0)15 overlapping SVs

3 papers

chr19:54595758 G>T

NM_006863.4

p.G261*

c.781G>T

Exome: 6.6% (AC=70136, hom=1791)Genome: 5.9% (AC=5885, hom=114)15 overlapping SVs

2 papers

chr19:54595198 A>G

NM_006863.4

p.S153G

c.457A>G

Exome: 10.0% (AC=145937, hom=9213)Genome: 17.3% (AC=26293, hom=3583)15 overlapping SVs

2 papers

chr19:54595313 G>A

NM_006863.4

p.R191H

c.572G>A

Exome: 5.2% (AC=76221, hom=4198)Genome: 13.1% (AC=19776, hom=2332)15 overlapping SVs

2 papers

chr19:54595677 C>T

NM_006863.4

p.P234S

c.700C>T

exact variant not in gnomAD15 overlapping SVs

2 papers

chr19:54595789 C>G

NM_006863.4

p.P271R

c.812C>G

Exome: 5.4% (AC=35182, hom=0)Genome: 19.0% (AC=11158, hom=0)15 overlapping SVs

2 papers

chr19:54595807 T>C

NM_006863.4

p.L277P

c.830T>C

Exome: 0.0% (AC=502, hom=0)Genome: 0.1% (AC=137, hom=0)15 overlapping SVs

2 papers

chr19:54595864 G>C

NM_006863.4

p.R296T

c.887G>C

Exome: 45.9% (AC=614945, hom=2)Genome: 41.4% (AC=45486, hom=0)15 overlapping SVs

2 papers

chr19:54595878 T>C

NM_006863.4

p.Y301H

c.901T>C

Exome: 6.3% (AC=83474, hom=1814)Genome: 19.0% (AC=28663, hom=514)15 overlapping SVs

2 papers

chr19:54596389 G>C

NM_006863.4

p.V387L

c.1159G>C

Ig_3

Exome: 0.0% (AC=2, hom=0)Genome: n/a16 overlapping SVs

2 papers

chr19:54596389 G>T

NM_006863.4

p.V387L

c.1159G>T

Ig_3

Exome: 4.7% (AC=69198, hom=1519)Genome: 3.5% (AC=5295, hom=104)16 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."