Varaico: Literature-Extracted Genetic Variants

Gene:SAFB2
Variant:p.D600N

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.D600N
c.1798G>A
Surrounding Variants
1 paper
NM_014649.3
p.K597N
c.1791G>T
1 paper
NM_014649.3
p.K597N
c.1791G>C
1 paper
NM_014649.3
p.S595N
c.1784G>A
1 paper
NM_014649.3
p.E607A
c.1820A>C
1 paper
NM_014649.3
p.E619K
c.1855G>A
1 paper
NM_014649.3
p.E624A
c.1871A>C
1 paper
NM_014649.3
p.R640Splc
c.1920-52C>G
1 paper
NM_014649.3
p.R647W
c.1939C>T
1 paper
NM_014649.3
p.E703Q
c.2107G>C
1 paper
NM_014649.3
p.R707H
c.2120G>A
1 paper
NM_014649.3
p.M750T
c.2249T>C
2 papers
NM_014649.3
p.D769N
c.2305G>A
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