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.D99E

c.297C>G

Surrounding Variants

1 paper

NM_031475.3

p.D99E

c.297C>A

1 paper

NM_031475.3

p.K100delFs

c.299_300delAA

1 paper

NM_031475.3

p.G104S

c.310G>A

1 paper

NM_031475.3

p.G104C

c.310G>T

1 paper

NM_031475.3

p.A105_H109delFs

c.313_326del14

2 papers

NM_031475.3

p.A105_T106delFs

c.315_316delCA

2 papers

NM_031475.3

p.T106fs

c.316_317fs

4 papers

NM_031475.3

p.R113C

c.337C>T

2 papers

NM_031475.3

p.R113H

c.338G>A

1 paper

NM_031475.3

p.P117S

c.349C>T

1 paper

NM_031475.3

p.L123F

c.367C>T

1 paper

NM_031475.3

p.H126Q

c.378T>A