Varaico: Literature-Extracted Genetic Variants

Gene:SAFB2
Variant:p.G824delFs

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.G824delFs
c.2471delC
Surrounding Variants
1 paper
NM_014649.3
p.G824fs
c.2470_2471fs
1 paper
NM_014649.3
p.D817N
c.2449G>A
2 papers
NM_014649.3
p.G815S
c.2443G>A
1 paper
NM_014649.3
p.R813H
c.2438G>A
1 paper
NM_014649.3
p.R813C
c.2437C>T
1 paper
NM_014649.3
p.P839L
c.2516C>T
1 paper
NM_014649.3
p.Q798_H799Splc
c.2394+3G>C
1 paper
NM_014649.3
p.G792A
c.2375G>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.R860H
c.2579G>A
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