Varaico: Literature-Extracted Genetic Variants

Gene:SPSB1
Variant:p.D231N

SPSB1

30 papers

Pfam Domains

SPRYaa 97–228UCSCSPRY domain
SOCS_boxaa 233–271UCSCSOCS box

Gene Aliases

HGNC Name

splA/ryanodine receptor domain and SOCS box containing 1

HGNC Alias Symbol

SSB-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025106.4
p.D231N
c.691G>A
Surrounding Variants
1 paper
NM_025106.4
p.P232A
c.694C>G
1 paper
NM_025106.4
p.R202W
c.604C>T
1 paper
NM_025106.4
p.D184A
c.551A>C
2 papers
NM_025106.4
p.T160A
c.478A>G
1 paper
NM_025106.4
p.R148W
c.442C>T
1 paper
NM_025106.4
p.R146H
c.437G>A
1 paper
NM_025106.4
p.R146C
c.436C>T
1 paper
NM_025106.4
p.L124fs
c.370_371fs
1 paper
NM_025106.4
p.Q108*
c.322C>T
1 paper
NM_025106.4
p.V99L
c.295G>C
1 paper
NM_025106.4
p.V99L
c.295G>T
1 paper
NM_025106.4
p.H98Y
c.292C>T
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