Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.P331T

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.P331T
c.991C>A
Surrounding Variants
1 paper
NM_194312.4
p.T335M
c.1004C>T
1 paper
NM_194312.4
p.P340L
c.1019C>T
1 paper
NM_194312.4
p.T349M
c.1046C>T
1 paper
NM_194312.4
p.R351C
c.1051C>T
1 paper
NM_194312.4
p.R358*
c.1072A>T
1 paper
NM_194312.4
p.R358K
c.1073G>A
1 paper
NM_194312.4
p.S367S
c.1101C>T
1 paper
NM_194312.4
p.S372N
c.1115G>A
1 paper
NM_194312.4
p.D380A
c.1139A>C
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
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