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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DKKL1

Variant:p.A10S

DKKL1

23 papers

RefSeq Summary

The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequenc...

Gene Aliases

HGNC Name

dickkopf like acrosomal protein 1

HGNC Alias Symbols

SGY-1; CT34

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:49364599 G>T

NM_014419.4

p.A10S

c.28G>T

Exome: 0.0% (AC=12, hom=0)Genome: n/a8 overlapping SVs

Surrounding Variants

1 paper

chr19:49364642 T>G

NM_014419.4

p.L24R

c.71T>G

Exome: 0.1% (AC=860, hom=5)Genome: 0.1% (AC=130, hom=4)8 overlapping SVs

2 papers

chr19:49364656 G>A

NM_014419.4

p.A29T

c.85G>A

Exome: 30.0% (AC=439117, hom=67723)Genome: 30.4% (AC=46277, hom=7218)8 overlapping SVs

1 paper

chr19:49364664 TC>T

NM_014419.4

p.P32delFs

c.95delC

Exome: 0.0% (AC=6, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr19:49365606 A>T

NM_014419.4

p.Q94L

c.281A>T

exact variant not in gnomAD7 overlapping SVs

3 papers

chr19:49365794 T>G

NM_014419.4

p.M109R

c.326T>G

Exome: 27.1% (AC=395457, hom=56260)Genome: 26.8% (AC=40680, hom=5717)7 overlapping SVs

1 paper

chr19:49365841 G>C

NM_014419.4

p.A125P

c.373G>C

exact variant not in gnomAD7 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."