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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MS4A5

MS4A5

9 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 49–189UCSCCD20-like family

Gene Aliases

HGNC Name

membrane spanning 4-domains A5

HGNC Alias Symbol

CD20L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr11:60429759 T>C

NM_023945.3

p.S29P

c.85T>C

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60429792 C>A

NM_023945.3

p.Q40K

c.118C>A

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:60433759 T>C

NM_023945.3

p.L113_I114Splc

c.340-6T>C

Exome: 28.9% (AC=421024, hom=63298)Genome: 23.0% (AC=35074, hom=4971)33 overlapping SVs

1 paper

chr11:60433777 C>T

NM_023945.3

p.R118*

c.352C>T

CD20

Exome: 0.0% (AC=115, hom=0)Genome: 0.0% (AC=15, hom=0)33 overlapping SVs

1 paper

chr11:60433793 T>G

NM_023945.3

p.L123R

c.368T>G

CD20

Exome: 0.0% (AC=2, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:60433903 A>G

NM_023945.3

p.T160A

c.478A>G

CD20

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:60447657 G>C

NM_023945.3

p.L167F

c.501G>C

CD20

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:60447657 G>T

NM_023945.3

p.L167F

c.501G>T

CD20

Exome: 0.0% (AC=0, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr11:60447744 T>G

NM_023945.3

p.C196W

c.588T>G

exact variant not in gnomAD33 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."