Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2

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
1–12 of 94 variants
3 papers
NM_001387889.1
p.A293T
c.877G>A
3 papers
NM_001387889.1
p.R782H
c.2345G>A
2 papers
NM_001387889.1
p.G112R
c.334G>C
2 papers
NM_001387889.1
p.A391V
c.1172C>T
2 papers
NM_001387889.1
p.T807M
c.2420C>T
1 paper
NM_001387889.1
p.M1L
c.1A>T
1 paper
NM_001387889.1
p.M1L
c.1A>C
1 paper
NM_001387889.1
p.S8F
c.23C>T
1 paper
NM_001387889.1
p.S14L
c.41C>T
1 paper
NM_001387889.1
p.H65_V66Splc
c.195+1G>A
1 paper
NM_001387889.1
p.V66G
c.197T>G
1 paper
NM_001387889.1
p.E81K
c.241G>A
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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."