Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2
Variant:p.F315L

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.F315L
c.945T>A
Surrounding Variants
1 paper
NM_001387889.1
p.F315L
c.945T>G
1 paper
NM_001387889.1
p.F315L
c.943T>C
1 paper
NM_001387889.1
p.A320A
c.960G>A
1 paper
NM_001387889.1
p.G303W
c.907G>T
3 papers
NM_001387889.1
p.A293T
c.877G>A
1 paper
NM_001387889.1
p.Q332_T334delFs
c.994_1001del8
1 paper
NM_001387889.1
p.Q360H
c.1080G>T
1 paper
NM_001387889.1
p.Q360H
c.1080G>C
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