Varaico: Literature-Extracted Genetic Variants

Gene:SAFB
Variant:p.F451_V452insFs

SAFB

140 papers

RefSeq Summary

This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of ch...

Pfam Domains

SAPaa 30–66UCSCSAP domain
RRM_1aa 409–478UCSCRNA recognition motif

Gene Aliases

HGNC Name

scaffold attachment factor B

HGNC Alias Symbols

HET; SAFB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001201338.2
p.F451_V452insFs
c.1353_1354insT
Surrounding Variants
1 paper
NM_001201338.2
p.K462_C463del2
c.1384_1388del6
1 paper
NM_001201338.2
p.K431_V432Splc
c.1294-17G>A
1 paper
NM_001201338.2
p.V479M
c.1435G>A
1 paper
NM_001201338.2
p.A525S
c.1573G>T
1 paper
NM_001201338.2
p.K527E
c.1579A>G
1 paper
NM_001201338.2
p.G531R
c.1591G>A
1 paper
NM_001201338.2
p.G531R
c.1591G>C
1 paper
NM_001201338.2
p.S536N
c.1607G>A
1 paper
NM_001201338.2
p.R549L
c.1646G>T
1 paper
NM_001201338.2
p.S557I
c.1670G>T
1 paper
NM_001201338.2
p.T563S
c.1687A>T
1 paper
NM_001201338.2
p.T563S
c.1688C>G
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