Varaico: Literature-Extracted Genetic Variants

Gene:SFMBT2
Variant:p.A391V

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
2 papers
NM_001387889.1
p.A391V
c.1172C>T
Surrounding Variants
1 paper
NM_001387889.1
p.D379N
c.1135G>A
1 paper
NM_001387889.1
p.R406L
c.1217G>T
1 paper
NM_001387889.1
p.F408L
c.1222T>C
1 paper
NM_001387889.1
p.F408L
c.1224C>G
1 paper
NM_001387889.1
p.F408L
c.1224C>A
1 paper
NM_001387889.1
p.P419T
c.1255C>A
1 paper
NM_001387889.1
p.N421fs
c.1261_1262fs
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