Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2
Variant:p.S748A

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.S748A
c.2242T>G
Surrounding Variants
1 paper
NM_001387889.1
p.A750T
c.2248G>A
1 paper
NM_001387889.1
p.D729N
c.2185G>A
1 paper
NM_001387889.1
p.R771C
c.2311C>T
1 paper
NM_001387889.1
p.R771H
c.2312G>A
1 paper
NM_001387889.1
p.E721K
c.2161G>A
1 paper
NM_001387889.1
p.E776Q
c.2326G>C
1 paper
NM_001387889.1
p.R779Q
c.2336G>A
3 papers
NM_001387889.1
p.R782H
c.2345G>A
1 paper
NM_001387889.1
p.V709M
c.2125G>A
1 paper
NM_001387889.1
p.R694*
c.2080C>T
1 paper
NM_001387889.1
p.P675R
c.2024C>G
1 paper
NM_001387889.1
p.R668T
c.2003G>C
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