Varaico: Literature-Extracted Genetic Variants

Gene:SBSN
Variant:p.E240G

SBSN

53 papers

Pfam Domains

SBSN_GxHH_rptaa 14–95UCSCSuprabasin, GxHH repeat
SBSN_GxHH_rptaa 96–479UCSCSuprabasin, GxHH repeat
SBSN_GxHH_rptaa 477–568UCSCSuprabasin, GxHH repeat

Gene Aliases

HGNC Name

suprabasin

HGNC Alias Symbols

UNQ698; HLAR698

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001166034.2
p.E240G
c.719A>G
Surrounding Variants
1 paper
NM_001166034.2
p.A246V
c.737C>T
1 paper
NM_001166034.2
p.H248R
c.743A>G
1 paper
NM_001166034.2
p.I228V
c.682A>G
1 paper
NM_001166034.2
p.R259fs
c.775_776fs
1 paper
NM_001166034.2
p.T221A
c.661A>G
1 paper
NM_001166034.2
p.R259delFs
c.777delT
1 paper
NM_001166034.2
p.V264A
c.791T>C
1 paper
NM_001166034.2
p.A210fs
c.628_629fs
1 paper
NM_001166034.2
p.F206fs
c.616_617fs
1 paper
NM_001166034.2
p.T275S
c.823A>T
1 paper
NM_001166034.2
p.R205I
c.614G>T
1 paper
NM_001166034.2
p.G200R
c.598G>C
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