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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MS4A6E

MS4A6E

30 papers

RefSeq Summary

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and...

Pfam Domains

CD20aa 42–143UCSCCD20-like family

Gene Aliases

HGNC Name

membrane spanning 4-domains A6E

HGNC Previous Name

membrane-spanning 4-domains, subfamily A, member 6E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

4 papers

chr11:60335034 G>T

NM_139249.4

p.V47F

c.139G>T

CD20

Exome: 32.7% (AC=477543, hom=81505)Genome: 31.9% (AC=48523, hom=8395)32 overlapping SVs

3 papers

chr11:60334911 A>G

NM_139249.4

p.I6V

c.16A>G

Exome: 32.6% (AC=475580, hom=81433)Genome: 32.0% (AC=48655, hom=8425)32 overlapping SVs

3 papers

chr11:60334923 A>G

NM_139249.4

p.T10A

c.28A>G

Exome: 32.6% (AC=475808, hom=81443)Genome: 32.0% (AC=48646, hom=8424)32 overlapping SVs

2 papers

chr11:60337893 T>C

NM_139249.4

p.Y100Y

c.300T>C

CD20

Exome: 2.8% (AC=41092, hom=939)Genome: 4.1% (AC=6226, hom=198)31 overlapping SVs

1 paper

chr11:60334919 T>A

NM_139249.4

p.N8K

c.24T>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60334919 T>G

NM_139249.4

p.N8K

c.24T>G

Exome: 0.0% (AC=5, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:60334955 C>A

NM_139249.4

p.N20K

c.60C>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60334955 C>G

NM_139249.4

p.N20K

c.60C>G

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60334956 T>A

NM_139249.4

p.F21I

c.61T>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60335014 G>A

NM_139249.4

p.R40H

c.119G>A

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=3, hom=0)32 overlapping SVs

1 paper

chr11:60335015 T>A

NM_139249.4

p.R40R

c.120T>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60335016 C>A

NM_139249.4

p.L41I

c.121C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a32 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."