Varaico: Literature-Extracted Genetic Variants

Gene:SBSN
Variant:p.E436D

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.E436D
c.1308G>T
Surrounding Variants
1 paper
NM_001166034.2
p.E436D
c.1308G>C
1 paper
NM_001166034.2
p.V444I
c.1330G>A
1 paper
NM_001166034.2
p.P446H
c.1337C>A
1 paper
NM_001166034.2
p.G420insFs
c.1260dupG
2 papers
NM_001166034.2
p.K453K
c.1359G>A
1 paper
NM_001166034.2
p.A419G
c.1256C>G
1 paper
NM_001166034.2
p.G456E
c.1367G>A
1 paper
NM_001166034.2
p.T465T
c.1395C>T
1 paper
NM_001166034.2
p.H485N
c.1453C>A
1 paper
NM_001166034.2
p.A487T
c.1459G>A
1 paper
NM_001166034.2
p.V372_V376del0
c.1116_1127del12
1 paper
NM_001166034.2
p.G375E
c.1124G>A
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