Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.Y176S

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
2 papers
NM_194312.4
p.Y176S
c.527A>C
Surrounding Variants
2 papers
NM_194312.4
p.R167Q
c.500G>A
1 paper
NM_194312.4
p.V198M
c.592G>A
1 paper
NM_194312.4
p.M206I
c.618G>A
1 paper
NM_194312.4
p.M206I
c.618G>C
1 paper
NM_194312.4
p.M206I
c.618G>T
4 papers
NM_194312.4
p.V221I
c.661G>A
1 paper
NM_194312.4
p.E136*
c.406G>T
1 paper
NM_194312.4
p.R135R
c.405G>A
1 paper
NM_194312.4
p.R135R
c.403C>A
1 paper
NM_194312.4
p.E133D
c.399G>C
1 paper
NM_194312.4
p.E133D
c.399G>T
1 paper
NM_194312.4
p.L124V
c.370C>G
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