Varaico: Literature-Extracted Genetic Variants

Gene:SPEGNB
Variant:p.L172P

SPEGNB

5 papers

Pfam Domains

IQaa 29–49UCSCIQ calmodulin-binding motif
I-setaa 54–144UCSCImmunoglobulin I-set domain
I-setaa 148–237UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

SPEG neighbor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001286811.2
p.L172P
c.515T>C
Surrounding Variants
1 paper
NM_001286811.2
p.F196_G199del0
c.588_596del9
1 paper
NM_001286811.2
p.Q135*
c.403C>T
1 paper
NM_001286811.2
p.G134S
c.400G>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."