Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.A242T

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.A242T
c.724G>A
Surrounding Variants
1 paper
NM_194312.4
p.L243L
c.729G>A
1 paper
NM_194312.4
p.A240T
c.718G>A
1 paper
NM_194312.4
p.A246S
c.736G>T
1 paper
NM_194312.4
p.R257*
c.769C>T
1 paper
NM_194312.4
p.L275delFs
c.823delC
1 paper
NM_194312.4
p.L275fs
c.823_824fs
1 paper
NM_194312.4
p.H276Q
c.828C>A
1 paper
NM_194312.4
p.H276Q
c.828C>G
4 papers
NM_194312.4
p.V221I
c.661G>A
1 paper
NM_194312.4
p.M206I
c.618G>A
1 paper
NM_194312.4
p.M206I
c.618G>C
1 paper
NM_194312.4
p.M206I
c.618G>T
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