Varaico: Literature-Extracted Genetic Variants

Gene:SAFB
Variant:p.A731D

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.A731D
c.2192C>A
Surrounding Variants
1 paper
NM_001201338.2
p.A731T
c.2191G>A
1 paper
NM_001201338.2
p.R729W
c.2185C>T
1 paper
NM_001201338.2
p.R729delFs
c.2186delG
1 paper
NM_001201338.2
p.R719Q
c.2156G>A
1 paper
NM_001201338.2
p.R764S
c.2292G>C
1 paper
NM_001201338.2
p.R764S
c.2292G>T
1 paper
NM_001201338.2
p.R764S
c.2292G>C
1 paper
NM_001201338.2
p.M771L
c.2311A>C
1 paper
NM_001201338.2
p.M771L
c.2311A>T
1 paper
NM_001201338.2
p.R718W
c.2152C>T
1 paper
NM_001201338.2
p.R707Q
c.2120G>A
1 paper
NM_001201338.2
p.R696C
c.2086C>T
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