Varaico: Literature-Extracted Genetic Variants

Gene:SAFB
Variant:p.E228*

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
1 paper
NM_001201338.2
p.E228*
c.682G>T
Surrounding Variants
1 paper
NM_001201338.2
p.K231R
c.692A>G
1 paper
NM_001201338.2
p.F241S
c.722T>C
1 paper
NM_001201338.2
p.D244V
c.731A>T
1 paper
NM_001201338.2
p.D259N
c.775G>A
1 paper
NM_001201338.2
p.D259H
c.775G>C
1 paper
NM_001201338.2
p.A286V
c.857C>T
1 paper
NM_001201338.2
p.S288C
c.862A>T
1 paper
NM_001201338.2
p.L290S
c.869T>C
1 paper
NM_001201338.2
p.K294R
c.881A>G
2 papers
NM_001201338.2
p.D303N
c.907G>A
1 paper
NM_001201338.2
p.R306K
c.917G>A
1 paper
NM_001201338.2
p.A342V
c.1025C>T
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