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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCYL3

Variant:p.P17T

SCYL3

47 papers

RefSeq Summary

This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migr...

Pfam Domains

PK_Tyr_Ser-Thraa 38–246UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

SCY1 like pseudokinase 3

HGNC Alias Symbols

PACE-1; PACE1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:169888792 G>T

NM_020423.7

p.P17T

c.49C>A

exact variant not in gnomAD177 overlapping SVs

Surrounding Variants

1 paper

chr1:169888718 C>CN

NM_020423.7

p.V41fs

c.121_122fs

PK_Tyr_Ser-Thr

exact variant not in gnomAD177 overlapping SVs

1 paper

chr1:169888690 T>G

NM_020423.7

p.N51H

c.151A>C

PK_Tyr_Ser-Thr

exact variant not in gnomAD177 overlapping SVs

1 paper

chr1:169878804 G>A

NM_020423.7

p.R61C

c.181C>T

PK_Tyr_Ser-Thr

Exome: 0.0% (AC=2, hom=0)Genome: n/a177 overlapping SVs

2 papers

chr1:169878803 C>T

NM_020423.7

p.R61H

c.182G>A

PK_Tyr_Ser-Thr

Exome: 0.0% (AC=2, hom=0)Genome: n/a177 overlapping SVs

1 paper

chr1:169878799 G>A

NM_020423.7

p.H62H

c.186C>T

PK_Tyr_Ser-Thr

Exome: 0.0% (AC=260, hom=2)Genome: 0.0% (AC=12, hom=0)177 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."