Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.T17S

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.T17S
c.49A>T
Surrounding Variants
1 paper
NM_194312.4
p.D12A
c.35A>C
1 paper
NM_194312.4
p.A10T
c.28G>A
2 papers
NM_194312.4
p.V8M
c.22G>A
1 paper
NM_194312.4
p.L27_G28ins0
c.81_83dupGGG
1 paper
NM_194312.4
p.R45Q
c.134G>A
1 paper
NM_194312.4
p.A46fs
c.136_137fs
1 paper
NM_194312.4
p.L49insFs
c.145dupC
1 paper
NM_194312.4
p.H48Q
c.144C>G
1 paper
NM_194312.4
p.R66W
c.196C>T
1 paper
NM_194312.4
p.D76N
c.226G>A
1 paper
NM_194312.4
p.A78delFs
c.234delT
1 paper
NM_194312.4
p.Q98_D99Splc
c.295-5G>C
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