Varaico: Literature-Extracted Genetic Variants

Gene:SBSN
Variant:p.A322V

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.A322V
c.965C>T
Surrounding Variants
1 paper
NM_001166034.2
p.G315fs
c.943_944fs
1 paper
NM_001166034.2
p.G315delFs
c.944delC
1 paper
NM_001166034.2
p.G315S
c.943G>A
1 paper
NM_001166034.2
p.Q334*
c.1000C>T
2 papers
NM_001166034.2
p.V336A
c.1007T>C
1 paper
NM_001166034.2
p.A357T
c.1069G>A
1 paper
NM_001166034.2
p.F361V
c.1081T>G
1 paper
NM_001166034.2
p.G281G
c.843G>C
1 paper
NM_001166034.2
p.T275S
c.823A>T
1 paper
NM_001166034.2
p.G375E
c.1124G>A
1 paper
NM_001166034.2
p.V372_V376del0
c.1116_1127del12
1 paper
NM_001166034.2
p.V264A
c.791T>C
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