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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FCRL2

FCRL2

62 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extra...

Pfam Domains

Ig_2aa 19–102UCSCImmunoglobulin domain

Ig_3aa 206–279UCSCImmunoglobulin domain

Ig_3aa 299–372UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

Fc receptor like 2

HGNC Previous Symbol

SPAP1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 74 variants

3 papers

chr1:157768584 G>C

NM_030764.4

p.S238C

c.713C>G

Ig_3

Exome: 2.3% (AC=32931, hom=485)Genome: 1.4% (AC=2178, hom=31)227 overlapping SVs

2 papers

chr1:157770399 A>G

NM_030764.4

p.E104Splc

c.310+10T>C

Exome: 46.9% (AC=683832, hom=162606)Genome: 53.3% (AC=80685, hom=22641)227 overlapping SVs

2 papers

chr1:157769983 G>A

NM_030764.4

p.P160S

c.478C>T

Exome: 0.2% (AC=3365, hom=41)Genome: 0.2% (AC=273, hom=2)227 overlapping SVs

2 papers

chr1:157769919 G>A

NM_030764.4

p.T181M

c.542C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)227 overlapping SVs

2 papers

chr1:157768692 A>G

NM_030764.4

p.I202T

c.605T>C

Exome: 0.1% (AC=831, hom=0)Genome: 0.0% (AC=35, hom=0)227 overlapping SVs

2 papers

chr1:157768668 C>T

NM_030764.4

p.R210Q

c.629G>A

Ig_3

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=30, hom=0)227 overlapping SVs

2 papers

chr1:157768519 G>T

NM_030764.4

p.L260M

c.778C>A

Ig_3

Exome: 0.2% (AC=3371, hom=10)Genome: 0.2% (AC=272, hom=1)227 overlapping SVs

2 papers

chr1:157748911 G>C

NM_030764.4

p.P453A

c.1357C>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a228 overlapping SVs

1 paper

chr1:157777056 C>A

NM_030764.4

p.L6F

c.18G>T

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:157777056 C>G

NM_030764.4

p.L6F

c.18G>C

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:157777024 G>A

NM_030764.4

p.D11Splc

c.31+19C>T

Exome: 0.2% (AC=2518, hom=63)Genome: 1.7% (AC=2582, hom=63)226 overlapping SVs

1 paper

chr1:157770663 G>T

NM_030764.4

p.S19*

c.56C>A

Ig_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a227 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."