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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHB

Variant:p.I242V

SHB

9p13.1 (UCSC)OMIM GTEx

62 papers

Pfam Domains

SH2aa 410–485UCSCSH2 domain

Gene Aliases

HGNC Name

SH2 domain containing adaptor protein B

HGNC Previous Names

SHB adaptor protein (a Src homology 2 protein); SHB (Src homology 2 domain containing) adaptor protein B; Src homology 2 domain containing adaptor protein B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:38016125 T>C

NM_003028.3

p.I242V

c.724A>G

Exome: 0.0% (AC=20, hom=0)Genome: n/a14 overlapping SVs

Surrounding Variants

chr9:38016032 C>T

NM_003028.3

p.E273K

c.817G>A

exact variant not in gnomAD14 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."