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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HLA-DQA1

HLA-DQA1

221 papers

RefSeq Summary

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a centr...

Gene Aliases

HGNC Name

major histocompatibility complex, class II, DQ alpha 1

HGNC Alias Symbol

CELIAC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 178 variants

12 papers

chr6:32641349 T>C

NM_002122.5

p.F41S

c.122T>C

Exome: 23.2% (AC=192749, hom=68797)Genome: 22.8% (AC=18572, hom=3842)62 overlapping SVs

11 papers

chr6:32641328 G>A

NM_002122.5

p.C34Y

c.101G>A

Exome: 29.2% (AC=266227, hom=93358)Genome: 25.6% (AC=20360, hom=4413)62 overlapping SVs

10 papers

chr6:32642029 C>T

NM_002122.5

p.T130I

c.389C>T

Exome: 24.0% (AC=322915, hom=53397)Genome: 16.6% (AC=17441, hom=2634)62 overlapping SVs

8 papers

chr6:32641396 C>G

NM_002122.5

p.Q57E

c.169C>G

Exome: 32.7% (AC=318614, hom=115049)Genome: 32.0% (AC=28868, hom=9189)62 overlapping SVs

8 papers

chr6:32642096 G>C

NM_002122.5

p.Q152H

c.456G>C

Exome: 37.2% (AC=322368, hom=141330)Genome: 26.2% (AC=18553, hom=5911)62 overlapping SVs

8 papers

chr6:32642096 G>T

NM_002122.5

p.Q152H

c.456G>T

Exome: 0.0% (AC=3, hom=1)Genome: 0.0% (AC=0, hom=0)62 overlapping SVs

8 papers

chr6:32642718 A>G

NM_002122.5

p.Q241R

c.722A>G

Exome: 17.1% (AC=145944, hom=62759)Genome: 11.7% (AC=10485, hom=1997)64 overlapping SVs

7 papers

chr6:32641430 C>T

NM_002122.5

p.A68V

c.203C>T

Exome: 3.8% (AC=33762, hom=14623)Genome: 4.7% (AC=3255, hom=371)62 overlapping SVs

7 papers

chr6:32641522 A>G

NM_002122.5

p.M99V

c.295A>G

Exome: 0.0% (AC=37, hom=4)Genome: 0.0% (AC=0, hom=0)62 overlapping SVs

6 papers

chr6:32641519 A>AG

NM_002122.5

p.I98Fs

c.292delinsAGFs

Exome: 0.0% (AC=404, hom=65)Genome: 0.1% (AC=62, hom=4)62 overlapping SVs

6 papers

chr6:32641535 A>C

NM_002122.5

p.Y103S

c.308A>C

Exome: 0.1% (AC=722, hom=273)Genome: 0.2% (AC=192, hom=28)62 overlapping SVs

6 papers

chr6:32642232 C>A

NM_002122.5

p.Q198K

c.592C>A

Exome: 5.8% (AC=64096, hom=13014)Genome: 2.4% (AC=2045, hom=37)62 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."