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.G264_E265del0

c.790_795del6

Surrounding Variants

1 paper

NM_031475.3

p.G264R

c.790G>A

1 paper

NM_031475.3

p.G264R

c.790G>C

1 paper

NM_031475.3

p.E265_I266del1

c.794_796delAGA

2 papers

NM_031475.3

p.H262Y

c.784C>T

2 papers

NM_031475.3

p.W258*

c.774G>A

2 papers

NM_031475.3

p.W258*

c.773G>A

1 paper

NM_031475.3

p.D269E

c.807C>A

1 paper

NM_031475.3

p.D269E

c.807C>G

1 paper

NM_031475.3

p.W271R

c.811T>A

1 paper

NM_031475.3

p.W271R

c.811T>C

1 paper

NM_031475.3

p.W271*

c.812G>A

1 paper

NM_031475.3

p.W271*

c.813G>A