Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.E837K

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
Selected Variant
4 papers
NM_194312.4
p.E837K
c.2509G>A
Surrounding Variants
2 papers
NM_194312.4
p.Q829R
c.2486A>G
1 paper
NM_194312.4
p.Q829delFs
c.2486delA
1 paper
NM_194312.4
p.A846fs
c.2536_2537fs
1 paper
NM_194312.4
p.P847insFs
c.2539dupC
1 paper
NM_194312.4
p.R825Q
c.2474G>A
1 paper
NM_194312.4
p.F858V
c.2572T>G
1 paper
NM_194312.4
p.Q864*
c.2590C>T
1 paper
NM_194312.4
p.G809delFs
c.2426delG
1 paper
NM_194312.4
p.L866Q
c.2597T>A
1 paper
NM_194312.4
p.I804S
c.2411T>G
1 paper
NM_194312.4
p.R801S
c.2401C>A
2 papers
NM_194312.4
p.K876E
c.2626A>G
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