Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.R941C

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.R941C
c.2821C>T
Surrounding Variants
1 paper
NM_194312.4
p.R941H
c.2822G>A
1 paper
NM_194312.4
p.L945V
c.2833C>G
1 paper
NM_194312.4
p.L945L
c.2835G>C
1 paper
NM_194312.4
p.W935C
c.2805G>C
1 paper
NM_194312.4
p.W935C
c.2805G>T
1 paper
NM_194312.4
p.P933P
c.2799C>T
2 papers
NM_194312.4
p.A955T
c.2863G>A
1 paper
NM_194312.4
p.F926L
c.2778C>A
1 paper
NM_194312.4
p.F926L
c.2778C>G
1 paper
NM_194312.4
p.F926L
c.2776T>C
1 paper
NM_194312.4
p.S959R
c.2875A>C
1 paper
NM_194312.4
p.S959R
c.2877C>A
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