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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPRR2B

SPRR2B

1q21.3 (UCSC)OMIM GTEx

4 papers

Pfam Domains

SPRR2aa 2–69UCSCSmall proline-rich 2

Gene Aliases

HGNC Name

small proline rich protein 2B

HGNC Previous Name

small proline-rich protein 2B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr1:153070648 C>A

NM_001388198.1

p.Q64H

c.192G>T

exact variant not in gnomAD235 overlapping SVs

chr1:153070648 C>G

NM_001388198.1

p.Q64H

c.192G>C

exact variant not in gnomAD235 overlapping SVs

chr1:153070633 C>T

NM_001388198.1

p.P69P

c.207G>A

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=4, hom=0)235 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."