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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAET1L

RAET1L

16 papers

RefSeq Summary

RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycopr...

Pfam Domains

MHC_Iaa 29–205UCSCClass I Histocompatibility antigen, domains alpha 1 and 2

Gene Aliases

HGNC Name

retinoic acid early transcript 1L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr6:150025396 T>C

NM_130900.3

p.R26G

c.76A>G

Exome: 44.6% (AC=650677, hom=146457)Genome: 44.6% (AC=67781, hom=15375)51 overlapping SVs

3 papers

chr6:150022075 A>G

NM_130900.3

p.M85T

c.254T>C

MHC_I

Exome: 87.7% (AC=1036136, hom=499029)Genome: 83.3% (AC=98291, hom=42159)51 overlapping SVs

2 papers

chr6:150022012 A>C

NM_130900.3

p.L106R

c.317T>G

MHC_I

Exome: 16.3% (AC=160044, hom=69014)Genome: 26.1% (AC=30216, hom=4893)51 overlapping SVs

2 papers

chr6:150021096 G>A

NM_130900.3

p.T147I

c.440C>T

MHC_I

Exome: 42.7% (AC=624400, hom=136144)Genome: 38.3% (AC=58236, hom=11659)51 overlapping SVs

1 paper

chr6:150022214 C>T

NM_130900.3

p.V39I

c.115G>A

MHC_I

Exome: 0.0% (AC=343, hom=0)Genome: 0.0% (AC=44, hom=0)51 overlapping SVs

1 paper

chr6:150022175 C>T

NM_130900.3

p.V52I

c.154G>A

MHC_I

Exome: 0.0% (AC=574, hom=3)Genome: 0.2% (AC=230, hom=1)51 overlapping SVs

1 paper

chr6:150022110 G>A

NM_130900.3

p.P73P

c.219C>T

MHC_I

Exome: 0.1% (AC=1018, hom=33)Genome: 0.7% (AC=1025, hom=11)51 overlapping SVs

1 paper

chr6:150021988 G>A

NM_130900.3

p.T114I

c.341C>T

MHC_I

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=7, hom=0)51 overlapping SVs

1 paper

chr6:150021107 G>A

NM_130900.3

p.I143I

c.429C>T

MHC_I

Exome: 0.3% (AC=4416, hom=15)Genome: 0.2% (AC=307, hom=2)51 overlapping SVs

1 paper

chr6:150021074 C>CN

NM_130900.3

p.E154fs

c.460_461fs

MHC_I

exact variant not in gnomAD51 overlapping SVs

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