Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.D380A

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
1 paper
NM_194312.4
p.D380A
c.1139A>C
Surrounding Variants
1 paper
NM_194312.4
p.S372N
c.1115G>A
1 paper
NM_194312.4
p.P391T
c.1171C>A
1 paper
NM_194312.4
p.A410V
c.1229C>T
1 paper
NM_194312.4
p.L411M
c.1231C>A
1 paper
NM_194312.4
p.L419insFs
c.1255dupC
1 paper
NM_194312.4
p.L419fs
c.1255_1256fs
1 paper
NM_194312.4
p.G430D
c.1289G>A
1 paper
NM_194312.4
p.D433insFs
c.1298_1299insA
1 paper
NM_194312.4
p.P445S
c.1333C>T
1 paper
NM_194312.4
p.K457T
c.1370A>C
1 paper
NM_194312.4
p.A468S
c.1402G>T
1 paper
NM_194312.4
p.E469K
c.1405G>A
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