Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2
Variant:p.S8F

SFMBT2

78 papers

Pfam Domains

MBTaa 78–148UCSCmbt repeat
MBTaa 190–260UCSCmbt repeat
MBTaa 304–376UCSCmbt repeat
MBTaa 412–481UCSCmbt repeat
SLEDaa 528–643UCSCSLED domain
SAM_1aa 822–885UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

Scm like with four mbt domains 2

HGNC Alias Symbol

KIAA1617

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387889.1
p.S8F
c.23C>T
Surrounding Variants
1 paper
NM_001387889.1
p.S14L
c.41C>T
1 paper
NM_001387889.1
p.M1L
c.1A>T
1 paper
NM_001387889.1
p.M1L
c.1A>C
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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."