Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEL1L2

Variant:p.R75C

SEL1L2

20p12.1 (UCSC)OMIM GTEx

40 papers

Pfam Domains

Sel1aa 143–178UCSCSel1 repeat

Sel1aa 179–214UCSCSel1 repeat

Sel1aa 216–247UCSCSel1 repeat

Sel1aa 300–333UCSCSel1 repeat

Sel1aa 312–337UCSCSel1 repeat

Sel1aa 334–370UCSCSel1 repeat

Gene Aliases

HGNC Name

SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase

HGNC Previous Symbol

C20orf50

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:13931663 G>A

NM_025229.2

p.R75C

c.223C>T

Exome: 11.5% (AC=155642, hom=9901)Genome: 9.2% (AC=13993, hom=913)17 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."