Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.E536K

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.E536K
c.1606G>A
Surrounding Variants
1 paper
NM_194312.4
p.L530L
c.1588C>T
1 paper
NM_194312.4
p.P542S
c.1624C>T
1 paper
NM_194312.4
p.E527E
c.1581G>A
1 paper
NM_194312.4
p.R521H
c.1562G>A
1 paper
NM_194312.4
p.V508L
c.1522G>C
3 papers
NM_194312.4
p.I568V
c.1702A>G
1 paper
NM_194312.4
p.L502L
c.1506G>C
1 paper
NM_194312.4
p.P573S
c.1717C>T
2 papers
NM_194312.4
p.A574S
c.1720G>T
3 papers
NM_194312.4
p.Q492E
c.1474C>G
1 paper
NM_194312.4
p.P479H
c.1436C>A
1 paper
NM_194312.4
p.S597Y
c.1790C>A
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