Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2
Variant:p.D127A

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.D127A
c.380A>C
Surrounding Variants
1 paper
NM_001387889.1
p.A126V
c.377C>T
1 paper
NM_001387889.1
p.V123I
c.367G>A
1 paper
NM_001387889.1
p.G132G
c.396G>T
1 paper
NM_001387889.1
p.R115C
c.343C>T
2 papers
NM_001387889.1
p.G112R
c.334G>C
1 paper
NM_001387889.1
p.G112R
c.334G>A
1 paper
NM_001387889.1
p.P143L
c.428C>T
1 paper
NM_001387889.1
p.R107H
c.320G>A
1 paper
NM_001387889.1
p.R107C
c.319C>T
1 paper
NM_001387889.1
p.T90T
c.270G>A
1 paper
NM_001387889.1
p.E81K
c.241G>A
1 paper
NM_001387889.1
p.V66G
c.197T>G
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