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

3 papers

NM_031475.3

p.W840*

c.2519G>A

Surrounding Variants

3 papers

NM_031475.3

p.W840*

c.2520G>A

1 paper

NM_031475.3

p.Q841R

c.2522A>G

1 paper

NM_031475.3

p.A838E

c.2513C>A

1 paper

NM_031475.3

p.V844I

c.2530G>A

1 paper

NM_031475.3

p.K836T

c.2507A>C

1 paper

NM_031475.3

p.S835N

c.2504G>A

1 paper

NM_031475.3

p.K848del1

c.2542_2544delAAG

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

1 paper

NM_031475.3

p.Y832C

c.2495A>G

1 paper

NM_031475.3

p.Y832delFs

c.2496delC