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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PASD1

Variant:p.Q213E

PASD1

82 papers

RefSeq Summary

This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore consid...

Gene Aliases

HGNC Name

PAS domain containing repressor 1

HGNC Alias Symbol

CT63

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chrX:151648622 C>G

NM_173493.3

p.Q213E

c.637C>G

Exome: 26.1% (AC=286135, hom=26474)Genome: 19.6% (AC=21798, hom=2041)12 overlapping SVs

Surrounding Variants

1 paper

chrX:151648629 A>G

NM_173493.3

p.Q215R

c.644A>G

Exome: 0.4% (AC=4880, hom=4)Genome: 0.3% (AC=342, hom=3)12 overlapping SVs

5 papers

chrX:151648669 CGCT>C

NM_173493.3

p.A236del1

c.706_708delGCT

Exome: 0.0% (AC=152, hom=1)Genome: 0.0% (AC=10, hom=1)12 overlapping SVs

1 paper

chrX:151648669 CGCTGCT>C

NM_173493.3

p.A235_A236del0

c.703_708del6

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)12 overlapping SVs

2 papers

chrX:151648674 C>T

NM_173493.3

p.A230V

c.689C>T

exact variant not in gnomAD12 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."