Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.D627V

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.D627V
c.1880A>T
Surrounding Variants
1 paper
NM_194312.4
p.D627E
c.1881C>A
1 paper
NM_194312.4
p.D627E
c.1881C>G
1 paper
NM_194312.4
p.T628S
c.1882A>T
1 paper
NM_194312.4
p.T628S
c.1883C>G
2 papers
NM_194312.4
p.S633L
c.1898C>T
1 paper
NM_194312.4
p.K619K
c.1857G>A
2 papers
NM_194312.4
p.V610M
c.1828G>A
1 paper
NM_194312.4
p.G649E
c.1946G>A
1 paper
NM_194312.4
p.S651A
c.1951T>G
2 papers
NM_194312.4
p.R653W
c.1957C>T
1 paper
NM_194312.4
p.R653Q
c.1958G>A
1 paper
NM_194312.4
p.V600E
c.1799T>A
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