Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL

ESPNL

103 papers

Pfam Domains

Ank_2aa 6–101UCSCAnkyrin repeats (3 copies)
Ank_2aa 6–101UCSCAnkyrin repeats (3 copies)
Ank_2aa 77–168UCSCAnkyrin repeats (3 copies)
Ank_2aa 108–202UCSCAnkyrin repeats (3 copies)
Ank_2aa 108–202UCSCAnkyrin repeats (3 copies)
Ank_2aa 175–265UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

espin like

HGNC Alias Symbol

FLJ42568

Papers
RefSeq ID
Protein change
DNA change
1–12 of 144 variants
4 papers
NM_194312.4
p.V221I
c.661G>A
4 papers
NM_194312.4
p.E837K
c.2509G>A
3 papers
NM_194312.4
p.Q492E
c.1474C>G
3 papers
NM_194312.4
p.I568V
c.1702A>G
3 papers
NM_194312.4
p.V904M
c.2710G>A
2 papers
NM_194312.4
p.V8M
c.22G>A
2 papers
NM_194312.4
p.R167Q
c.500G>A
2 papers
NM_194312.4
p.Y176S
c.527A>C
2 papers
NM_194312.4
p.T306M
c.917C>T
2 papers
NM_194312.4
p.E536K
c.1606G>A
2 papers
NM_194312.4
p.A574S
c.1720G>T
2 papers
NM_194312.4
p.V610M
c.1828G>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."