Varaico: Literature-Extracted Genetic Variants

ESPN

244 papers

RefSeq Summary

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus...

Pfam Domains

Ank_2aa 64–135UCSCAnkyrin repeats (3 copies)

Ank_2aa 108–203UCSCAnkyrin repeats (3 copies)

Ank_2aa 195–269UCSCAnkyrin repeats (3 copies)

Ank_2aa 260–334UCSCAnkyrin repeats (3 copies)

WH2aa 648–675UCSCWH2 motif

Gene Aliases

HGNC Name

espin

HGNC Previous Symbol

DFNB36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031475.3

p.E825K

c.2473G>A

Surrounding Variants

1 paper

NM_031475.3

p.Q823*

c.2467C>T

1 paper

NM_031475.3

p.E822V

c.2465A>T

1 paper

NM_031475.3

p.R828Q

c.2483G>A

1 paper

NM_031475.3

p.K821E

c.2461A>G

4 papers

NM_031475.3

p.T829M

c.2486C>T

1 paper

NM_031475.3

p.E820G

c.2459A>G

1 paper

NM_031475.3

p.R819L

c.2456G>T

1 paper

NM_031475.3

p.Y832C

c.2495A>G

1 paper

NM_031475.3

p.Y832delFs

c.2496delC

2 papers

NM_031475.3

p.Y832*

c.2496C>A

1 paper

NM_031475.3

p.D833_E834ins0

c.2499_2501dupTGA

2 papers

NM_031475.3

p.Y832*

c.2496C>G