Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.V904M

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
3 papers
NM_194312.4
p.V904M
c.2710G>A
Surrounding Variants
1 paper
NM_194312.4
p.A903A
c.2709C>T
1 paper
NM_194312.4
p.V904V
c.2712G>C
1 paper
NM_194312.4
p.D906N
c.2716G>A
1 paper
NM_194312.4
p.A899T
c.2695G>A
1 paper
NM_194312.4
p.R898C
c.2692C>T
1 paper
NM_194312.4
p.R912C
c.2734C>T
2 papers
NM_194312.4
p.R913Q
c.2738G>A
1 paper
NM_194312.4
p.D917N
c.2749G>A
1 paper
NM_194312.4
p.G918S
c.2752G>A
1 paper
NM_194312.4
p.F926L
c.2776T>C
1 paper
NM_194312.4
p.F926L
c.2778C>A
1 paper
NM_194312.4
p.F926L
c.2778C>G
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