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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BTN3A2

BTN3A2

41 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members o...

Pfam Domains

V-setaa 35–144UCSCImmunoglobulin V-set domain

C2-set_3aa 146–232UCSCButyrophilin subfamily 3 member A2-like, Ig-C domain

Gene Aliases

HGNC Name

butyrophilin subfamily 3 member A2

HGNC Alias Symbol

BTN3.2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 32 variants

3 papers

chr6:26368710 C>T

NM_007047.5

p.N77N

c.231C>T

V-set

Exome: 23.8% (AC=345837, hom=436)Genome: 23.7% (AC=35845, hom=292)47 overlapping SVs

3 papers

chr6:26370520 G>A

NM_007047.5

p.R211K

c.632G>A

C2-set_3

Exome: 11.9% (AC=173386, hom=11001)Genome: 12.8% (AC=19502, hom=1324)47 overlapping SVs

2 papers

chr6:26370345 G>A

NM_007047.5

p.E153K

c.457G>A

C2-set_3

Exome: 0.0% (AC=12, hom=0)Genome: n/a47 overlapping SVs

2 papers

chr6:26370429 A>G

NM_007047.5

p.N181D

c.541A>G

C2-set_3

Exome: 11.2% (AC=164059, hom=10166)Genome: 7.7% (AC=11686, hom=558)47 overlapping SVs

2 papers

chr6:26370432 G>A

NM_007047.5

p.A182T

c.544G>A

C2-set_3

Exome: 7.9% (AC=115198, hom=5435)Genome: 7.5% (AC=11429, hom=532)47 overlapping SVs

2 papers

chr6:26370534 G>T

NM_007047.5

p.E216*

c.646G>T

C2-set_3

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=8, hom=0)47 overlapping SVs

2 papers

chr6:26370605 T>G

NM_007047.5

p.D239Splc

c.715+2T>G

Exome: 3.8% (AC=55135, hom=1181)Genome: 4.6% (AC=6928, hom=166)47 overlapping SVs

1 paper

chr6:26368232 C>T

NM_007047.5

p.S17F

c.50C>T

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=2, hom=0)48 overlapping SVs

1 paper

chr6:26368625 A>G

NM_007047.5

p.D49G

c.146A>G

V-set

Exome: 0.0% (AC=1, hom=0)Genome: n/a47 overlapping SVs

1 paper

chr6:26368658 C>T

NM_007047.5

p.A60V

c.179C>T

V-set

Exome: 0.0% (AC=1, hom=0)Genome: n/a47 overlapping SVs

1 paper

chr6:26368661 A>T

NM_007047.5

p.E61V

c.182A>T

V-set

exact variant not in gnomAD47 overlapping SVs

1 paper

chr6:26368669 G>A

NM_007047.5

p.E64K

c.190G>A

V-set

Exome: 0.0% (AC=1, hom=0)Genome: n/a47 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."