Varaico: Literature-Extracted Genetic Variants

Gene:SPSB1
Variant:p.M14L

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.M14L
c.40A>T
Surrounding Variants
1 paper
NM_025106.4
p.M14L
c.40A>C
1 paper
NM_025106.4
p.D16N
c.46G>A
1 paper
NM_025106.4
p.R36W
c.106C>T
1 paper
NM_025106.4
p.R36Q
c.107G>A
1 paper
NM_025106.4
p.P45S
c.133C>T
1 paper
NM_025106.4
p.S47F
c.140C>T
1 paper
NM_025106.4
p.F66L
c.198T>A
1 paper
NM_025106.4
p.V67V
c.201G>A
1 paper
NM_025106.4
p.H98Y
c.292C>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.Q108*
c.322C>T
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