Varaico: Literature-Extracted Genetic Variants

Gene:SAFB2
Variant:p.I390delFs

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014649.3
p.I390delFs
c.1169delA
Surrounding Variants
1 paper
NM_014649.3
p.I390fs
c.1168_1169fs
1 paper
NM_014649.3
p.T339M
c.1016C>T
1 paper
NM_014649.3
p.R419C
c.1255C>T
1 paper
NM_014649.3
p.R419G
c.1255C>G
1 paper
NM_014649.3
p.D422G
c.1265A>G
1 paper
NM_014649.3
p.L209F
c.627G>T
1 paper
NM_014649.3
p.L209F
c.627G>C
1 paper
NM_014649.3
p.S207F
c.620C>T
1 paper
NM_014649.3
p.I204V
c.610A>G
1 paper
NM_014649.3
p.S195L
c.584C>T
1 paper
NM_014649.3
p.A442T
c.1324G>A
1 paper
NM_014649.3
p.R443H
c.1328G>A
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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."