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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD1A

CD1A

74 papers

RefSeq Summary

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-mic...

Pfam Domains

MHC_I_3aa 1–197UCSCMHC-I family domain

C1-setaa 208–285UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1a molecule

HGNC Previous Names

CD1A antigen, a polypeptide; CD1a antigen

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 74 variants

8 papers

chr1:158255114 C>T

NM_001763.3

p.T30I

c.89C>T

MHC_I_3

Exome: 8.1% (AC=117680, hom=7610)Genome: 7.6% (AC=11569, hom=799)228 overlapping SVs

7 papers

chr1:158255229 C>G

NM_001763.3

p.C68W

c.204C>G

MHC_I_3

Exome: 8.1% (AC=117756, hom=7612)Genome: 7.6% (AC=11602, hom=808)228 overlapping SVs

2 papers

chr1:158256900 G>A

NM_001763.3

p.G240D

c.719G>A

C1-set

Exome: 0.4% (AC=5506, hom=17)Genome: 0.3% (AC=427, hom=1)228 overlapping SVs

2 papers

chr1:158256918 G>C

NM_001763.3

p.G246A

c.737G>C

C1-set

exact variant not in gnomAD228 overlapping SVs

2 papers

chr1:158256926 C>T

NM_001763.3

p.R249*

c.745C>T

C1-set

Exome: 0.0% (AC=268, hom=0)Genome: 0.2% (AC=270, hom=0)228 overlapping SVs

2 papers

chr1:158256969 G>A

NM_001763.3

p.R263H

c.788G>A

C1-set

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=27, hom=0)228 overlapping SVs

1 paper

chr1:158254718 A>G

NM_001763.3

p.N17D

c.49A>G

MHC_I_3

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:158254726 C>T

NM_001763.3

p.D19D

c.57C>T

MHC_I_3

Exome: 0.0% (AC=361, hom=0)Genome: 0.1% (AC=100, hom=0)229 overlapping SVs

1 paper

chr1:158255098 C>CN

NM_001763.3

p.L25fs

c.73_74fs

MHC_I_3

exact variant not in gnomAD228 overlapping SVs

1 paper

chr1:158255117 G>A

NM_001763.3

p.W31*

c.92G>A

MHC_I_3

exact variant not in gnomAD228 overlapping SVs

1 paper

chr1:158255118 G>A

NM_001763.3

p.W31*

c.93G>A

MHC_I_3

Exome: 0.0% (AC=181, hom=0)Genome: 0.0% (AC=19, hom=0)228 overlapping SVs

1 paper

chr1:158255121 C>T

NM_001763.3

p.I32I

c.96C>T

MHC_I_3

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)228 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."