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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FCGR3A

FCGR3A

209 papers

RefSeq Summary

This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibod...

Pfam Domains

Ig_2aa 26–104UCSCImmunoglobulin domain

Ig_2aa 108–190UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

Fc gamma receptor IIIa

HGNC Previous Symbols

FCGR3; FCG3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 81 variants

26 papers

chr1:161544752 A>C

NM_000569.8

p.F176V

c.526T>G

Ig_2

Exome: 31.8% (AC=443648, hom=78722)Genome: 33.0% (AC=49964, hom=8307)235 overlapping SVs

13 papers

chr1:161548543 A>T

NM_000569.8

p.L66H

c.197T>A

Ig_2

Exome: 6.6% (AC=96231, hom=632)Genome: 5.0% (AC=7656, hom=100)235 overlapping SVs

8 papers

chr1:161544719 T>G

NM_000569.8

p.N187H

c.559A>C

Ig_2

exact variant not in gnomAD235 overlapping SVs

5 papers

chr1:161543143 A>C

NM_000569.8

p.C212G

c.634T>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a235 overlapping SVs

4 papers

chr1:161548507 G>T

NM_000569.8

p.A78D

c.233C>A

Ig_2

Exome: 0.0% (AC=547, hom=5)Genome: 0.4% (AC=541, hom=5)235 overlapping SVs

4 papers

chr1:161544929 C>T

NM_000569.8

p.V117M

c.349G>A

Ig_2

exact variant not in gnomAD235 overlapping SVs

3 papers

chr1:161548496 C>T

NM_000569.8

p.D82N

c.244G>A

Ig_2

Exome: 0.1% (AC=1096, hom=36)Genome: 1.0% (AC=1182, hom=8)235 overlapping SVs

3 papers

chr1:161548424 T>C

NM_000569.8

p.I106V

c.316A>G

Exome: 24.4% (AC=294808, hom=18)Genome: 25.2% (AC=34860, hom=0)235 overlapping SVs

3 papers

chr1:161544838 C>T

NM_000569.8

p.G147D

c.440G>A

Ig_2

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)235 overlapping SVs

3 papers

chr1:161544722 C>T

NM_000569.8

p.V186M

c.556G>A

Ig_2

Exome: 0.0% (AC=3, hom=0)Genome: n/a235 overlapping SVs

2 papers

chr1:161548632 C>G

NM_000569.8

p.R36S

c.108G>C

Ig_2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=12, hom=0)234 overlapping SVs

2 papers

chr1:161548543 A>C

NM_000569.8

p.L66R

c.197T>G

Ig_2

Exome: 4.3% (AC=62350, hom=475)Genome: 5.1% (AC=7694, hom=65)235 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."