Varaico: Literature-Extracted Genetic Variants

Gene:SBSN
Variant:p.F206fs

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.F206fs
c.616_617fs
Surrounding Variants
1 paper
NM_001166034.2
p.R205I
c.614G>T
1 paper
NM_001166034.2
p.A210fs
c.628_629fs
1 paper
NM_001166034.2
p.G200R
c.598G>C
1 paper
NM_001166034.2
p.G200R
c.598G>A
1 paper
NM_001166034.2
p.T221A
c.661A>G
1 paper
NM_001166034.2
p.I228V
c.682A>G
2 papers
NM_001166034.2
p.G179A
c.536G>C
1 paper
NM_001166034.2
p.H176N
c.526C>A
1 paper
NM_001166034.2
p.Q172H
c.516G>T
1 paper
NM_001166034.2
p.Q172H
c.516G>C
1 paper
NM_001166034.2
p.Q172K
c.514C>A
1 paper
NM_001166034.2
p.E240G
c.719A>G
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