Varaico: Literature-Extracted Genetic Variants

Gene:SBSN

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
1–12 of 58 variants
2 papers
NM_001166034.2
p.G179A
c.536G>C
2 papers
NM_001166034.2
p.V336A
c.1007T>C
2 papers
NM_001166034.2
p.K453K
c.1359G>A
1 paper
NM_001166034.2
p.R5H
c.14G>A
1 paper
NM_001166034.2
p.A23A
c.69G>A
1 paper
NM_001166034.2
p.E64K
c.190G>A
1 paper
NM_001166034.2
p.G71A
c.212G>C
1 paper
NM_001166034.2
p.A112E
c.335C>A
1 paper
NM_001166034.2
p.G124E
c.371G>A
1 paper
NM_001166034.2
p.K132T
c.395A>C
1 paper
NM_001166034.2
p.G141R
c.421G>C
1 paper
NM_001166034.2
p.G141R
c.421G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."