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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIGLEC5

Variant:p.P505S

SIGLEC5

62 papers

RefSeq Summary

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like doma...

Pfam Domains

V-setaa 24–140UCSCImmunoglobulin V-set domain

Ig_3aa 249–318UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 5

HGNC Previous Symbol

CD33L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:51612374 G>A

NM_003830.4

p.P505S

c.1513C>T

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

4 papers

chr19:51612392 G>C

NM_003830.4

p.P499A

c.1495C>G

Exome: 43.9% (AC=640498, hom=141847)Genome: 41.3% (AC=62872, hom=13355)11 overlapping SVs

1 paper

chr19:51612328 T>A

NM_003830.4

p.Y520F

c.1559A>T

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:51612298 G>T

NM_003830.4

p.S530*

c.1589C>A

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:51612295 C>T

NM_003830.4

p.R531K

c.1592G>A

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:51612256 T>A

NM_003830.4

p.Y544F

c.1631A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:51612253 G>A

NM_003830.4

p.S545L

c.1634C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)11 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."