Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.T306M

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.T306M
c.917C>T
Surrounding Variants
1 paper
NM_194312.4
p.V295M
c.883G>A
1 paper
NM_194312.4
p.P329P
c.987G>A
1 paper
NM_194312.4
p.P331T
c.991C>A
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.H276Q
c.828C>A
1 paper
NM_194312.4
p.H276Q
c.828C>G
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