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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD1B

CD1B

65 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 1–198UCSCMHC-I family domain

C1-setaa 210–286UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1b molecule

HGNC Previous Names

CD1B antigen, b polypeptide; CD1b antigen

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 81 variants

5 papers

chr1:158329898 A>C

NM_001764.3

p.Y187*

c.561T>G

MHC_I_3

exact variant not in gnomAD229 overlapping SVs

5 papers

chr1:158329898 A>T

NM_001764.3

p.Y187*

c.561T>A

MHC_I_3

Exome: 0.2% (AC=2691, hom=7)Genome: 0.1% (AC=201, hom=0)229 overlapping SVs

3 papers

chr1:158330814 C>T

NM_001764.3

p.G104S

c.310G>A

MHC_I_3

Exome: 1.3% (AC=18707, hom=145)Genome: 1.0% (AC=1503, hom=15)229 overlapping SVs

2 papers

chr1:158330885 T>G

NM_001764.3

p.E80A

c.239A>C

MHC_I_3

exact variant not in gnomAD229 overlapping SVs

2 papers

chr1:158330061 C>T

NM_001764.3

p.R133K

c.398G>A

MHC_I_3

Exome: 0.0% (AC=2, hom=0)Genome: n/a229 overlapping SVs

1 paper

chr1:158331398 A>T

NM_001764.3

p.L9*

c.26T>A

MHC_I_3

exact variant not in gnomAD230 overlapping SVs

1 paper

chr1:158331396 C>T

NM_001764.3

p.A10T

c.28G>A

MHC_I_3

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)230 overlapping SVs

1 paper

chr1:158331062 G>T

NM_001764.3

p.A21D

c.62C>A

MHC_I_3

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:158331048 T>C

NM_001764.3

p.T26A

c.76A>G

MHC_I_3

exact variant not in gnomAD229 overlapping SVs

1 paper

chr1:158331033 T>A

NM_001764.3

p.I31F

c.91A>T

MHC_I_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a229 overlapping SVs

1 paper

chr1:158331020 G>C

NM_001764.3

p.S35C

c.104C>G

MHC_I_3

Exome: 0.0% (AC=5, hom=0)Genome: n/a229 overlapping SVs

1 paper

chr1:158331008 C>T

NM_001764.3

p.S39N

c.116G>A

MHC_I_3

exact variant not in gnomAD229 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."