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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCSAML

Variant:p.G2E

GCSAML

17 papers

RefSeq Summary

This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in m...

Pfam Domains

HGALaa 16–102UCSCGerminal center-associated lymphoma

Gene Aliases

HGNC Name

germinal center associated signaling and motility like

HGNC Previous Symbol

C1orf150

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr1:247549196 G>A

NM_145278.5

p.G2E

c.5G>A

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr1:247556257 C>T

NM_145278.5

p.S10Splc

c.30-150C>T

Exome: 0.1% (AC=521, hom=2)Genome: 0.1% (AC=125, hom=1)14 overlapping SVs

1 paper

chr1:247556414 G>A

NM_145278.5

p.G13R

c.37G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr1:247556414 G>C

NM_145278.5

p.G13R

c.37G>C

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=16, hom=0)14 overlapping SVs

4 papers

chr1:247556467 G>A

NM_145278.5

p.R30Splc

c.89+1G>A

Exome: 6.4% (AC=92654, hom=3255)Genome: 5.4% (AC=8252, hom=222)14 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."