Varaico: Literature-Extracted Genetic Variants

Gene:SEL1L3
Variant:p.S291*

SEL1L3

39 papers

Pfam Domains

Sel1aa 570–597UCSCSel1 repeat
Sel1aa 570–597UCSCSel1 repeat
Sel1aa 689–723UCSCSel1 repeat
Sel1aa 727–762UCSCSel1 repeat
Sel1aa 727–762UCSCSel1 repeat
Sel1aa 796–834UCSCSel1 repeat

Gene Aliases

HGNC Name

SEL1L family member 3

HGNC Alias Symbol

KIAA0746

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015187.5
p.S291*
c.872C>G
Surrounding Variants
1 paper
NM_015187.5
p.S291*
c.872C>A
1 paper
NM_015187.5
p.H298R
c.893A>G
1 paper
NM_015187.5
p.N314S
c.941A>G
1 paper
NM_015187.5
p.E315K
c.943G>A
1 paper
NM_015187.5
p.G364R
c.1090G>C
1 paper
NM_015187.5
p.G364R
c.1090G>A
1 paper
NM_015187.5
p.P268L
c.803C>T
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