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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAFB2

Variant:p.R39Q

SAFB2

68 papers

RefSeq Summary

The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR)...

Pfam Domains

SAPaa 29–65UCSCSAP domain

RRM_1aa 409–479UCSCRNA recognition motif

Gene Aliases

HGNC Name

scaffold attachment factor B2

HGNC Alias Symbol

KIAA0138

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:5622600 C>T

NM_014649.3

p.R39Q

c.116G>A

SAP

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr19:5622646 CTC>N

NM_014649.3

p.E24fs

c.70_71fs

exact variant not in gnomAD6 overlapping SVs

1 paper

chr19:5622715 T>C

NM_014649.3

p.M1V

c.1A>G

exact variant not in gnomAD6 overlapping SVs

1 paper

chr19:5621354 C>G

NM_014649.3

p.E77Q

c.229G>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr19:5616439 C>T

NM_014649.3

p.D108N

c.322G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr19:5613487 G>A

NM_014649.3

p.S195L

c.584C>T

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)6 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."