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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLK15

KLK15

26 papers

RefSeq Summary

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel...

Pfam Domains

Trypsinaa 21–158UCSCTrypsin

Trypsinaa 22–249UCSCTrypsin

Gene Aliases

HGNC Name

kallikrein related peptidase 15

HGNC Alias Symbols

HSRNASPH; prostinogen

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 31 variants

4 papers

chr19:50825890 C>T

NM_017509.4

p.G226D

c.677G>A

Trypsin

Exome: 0.4% (AC=6070, hom=21)Genome: 0.3% (AC=441, hom=4)9 overlapping SVs

2 papers

chr19:50827807 C>T

NM_017509.4

p.D18N

c.52G>A

Exome: 0.1% (AC=1185, hom=49)Genome: 0.1% (AC=140, hom=4)10 overlapping SVs

1 paper

chr19:50827813 C>A

NM_017509.4

p.A16S

c.46G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50827761 T>C

NM_017509.4

p.Q33R

c.98A>G

Trypsin

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=8, hom=0)10 overlapping SVs

1 paper

chr19:50827722 T>A

NM_017509.4

p.N46I

c.137A>T

Trypsin

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:50827166 G>A

NM_017509.4

p.R66Splc

c.198-5C>T

Exome: 0.0% (AC=31, hom=1)Genome: 0.0% (AC=3, hom=0)9 overlapping SVs

1 paper

chr19:50827126 C>T

NM_017509.4

p.R78H

c.233G>A

Trypsin

Exome: 0.0% (AC=2, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:50827100 G>A

NM_017509.4

p.R87W

c.259C>T

Trypsin

Exome: 0.1% (AC=1410, hom=1)Genome: 0.1% (AC=119, hom=0)9 overlapping SVs

1 paper

chr19:50827093 G>A

NM_017509.4

p.T89M

c.266C>T

Trypsin

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)9 overlapping SVs

1 paper

chr19:50827069 C>T

NM_017509.4

p.R97H

c.290G>A

Trypsin

Exome: 0.0% (AC=688, hom=6)Genome: 0.4% (AC=682, hom=5)9 overlapping SVs

1 paper

chr19:50827044 G>A

NM_017509.4

p.N105N

c.315C>T

Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:50827025 G>C

NM_017509.4

p.L112V

c.334C>G

Trypsin

exact variant not in gnomAD9 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."