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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:QSER1

Variant:p.S70I

QSER1

11p13 (UCSC)OMIM GTEx

42 papers

Pfam Domains

DUF4211aa 1485–1646UCSCDomain of unknown function (DUF4211)

DUF4211aa 1615–1775UCSCDomain of unknown function (DUF4211)

Gene Aliases

HGNC Name

glutamine and serine rich 1

HGNC Alias Symbol

FLJ21924

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:32893334 G>T

NM_001076786.3

p.S70I

c.209G>T

exact variant not in gnomAD22 overlapping SVs

Surrounding Variants

chr11:32893228 C>T

NM_001076786.3

p.P35S

c.103C>T

exact variant not in gnomAD24 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."