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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEDS1

Variant:p.N6D

PEDS1

17 papers

RefSeq Summary

Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequ...

Gene Aliases

HGNC Name

plasmanylethanolamine desaturase 1

HGNC Previous Symbol

TMEM189

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:50153622 T>C

NM_199129.4

p.N6D

c.16A>G

Exome: 100.0% (AC=1157562, hom=578777)Genome: 100.0% (AC=151922, hom=75961)11 overlapping SVs

Surrounding Variants

2 papers

chr20:50153619 A>C

NM_199129.4

p.W7G

c.19T>G

Exome: 1.2% (AC=13707, hom=1746)Genome: 10.0% (AC=15153, hom=2427)11 overlapping SVs

1 paper

chr20:50153637 CAT>N

NM_199129.4

p.M1fs

c.1_2fs

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:50153575 A>AN

NM_199129.4

p.C21fs

c.61_62fs

UQ_con

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:50153535 AGC>N

NM_199129.4

p.A35fs

c.103_104fs

UQ_con

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:50153533 A>AN

NM_199129.4

p.A35fs

c.103_104fs

UQ_con

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:50153533 AG>A

NM_199129.4

p.A35delFs

c.104delG

UQ_con

exact variant not in gnomAD11 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."