Varaico: Literature-Extracted Genetic Variants

Gene:SAFB2
Variant:p.H779H

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.H779H
c.2337C>T
Surrounding Variants
1 paper
NM_014649.3
p.R773W
c.2317C>T
1 paper
NM_014649.3
p.D772V
c.2315A>T
2 papers
NM_014649.3
p.D769N
c.2305G>A
1 paper
NM_014649.3
p.M750T
c.2249T>C
1 paper
NM_014649.3
p.M791I
c.2373G>T
1 paper
NM_014649.3
p.M791I
c.2373G>C
1 paper
NM_014649.3
p.M791I
c.2373G>A
1 paper
NM_014649.3
p.G792A
c.2375G>C
1 paper
NM_014649.3
p.Q798_H799Splc
c.2394+3G>C
1 paper
NM_014649.3
p.R707H
c.2120G>A
1 paper
NM_014649.3
p.E703Q
c.2107G>C
1 paper
NM_014649.3
p.R647W
c.1939C>T
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