Varaico: Literature-Extracted Genetic Variants

Gene:SAFB

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
1–12 of 105 variants
2 papers
NM_001201338.2
p.E74K
c.220G>A
2 papers
NM_001201338.2
p.D303N
c.907G>A
2 papers
NM_001201338.2
p.F451_V452insFs
c.1353_1354insT
2 papers
NM_001201338.2
p.Q896insFs
c.2686_2687insT
1 paper
NM_001201338.2
p.M1V
c.1A>G
1 paper
NM_001201338.2
p.M1L
c.1A>T
1 paper
NM_001201338.2
p.M1R
c.2T>G
1 paper
NM_001201338.2
p.M1I
c.3G>T
1 paper
NM_001201338.2
p.G12A
c.35G>C
1 paper
NM_001201338.2
p.G12V
c.35G>T
1 paper
NM_001201338.2
p.A13V
c.38C>T
1 paper
NM_001201338.2
p.A17V
c.50C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."