Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.A727V

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.A727V
c.2180C>T
Surrounding Variants
1 paper
NM_194312.4
p.A728T
c.2182G>A
1 paper
NM_194312.4
p.A725A
c.2175G>A
1 paper
NM_194312.4
p.E719K
c.2155G>A
1 paper
NM_194312.4
p.S714F
c.2141C>T
1 paper
NM_194312.4
p.R751K
c.2252G>A
1 paper
NM_194312.4
p.G697V
c.2090G>T
1 paper
NM_194312.4
p.R764S
c.2292G>C
1 paper
NM_194312.4
p.R764S
c.2292G>T
1 paper
NM_194312.4
p.A771V
c.2312C>T
1 paper
NM_194312.4
p.H680R
c.2039A>G
1 paper
NM_194312.4
p.R656W
c.1966C>T
1 paper
NM_194312.4
p.R801S
c.2401C>A
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