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.H126Q

c.378T>A

Surrounding Variants

1 paper

NM_031475.3

p.H126Q

c.378T>G

1 paper

NM_031475.3

p.G128delFs

c.382_383delGG

1 paper

NM_031475.3

p.G128S

c.382G>A

1 paper

NM_031475.3

p.L123F

c.367C>T

1 paper

NM_031475.3

p.A133V

c.398C>T

1 paper

NM_031475.3

p.D136fs

c.406_407fs

1 paper

NM_031475.3

p.D136delFs

c.407delA

1 paper

NM_031475.3

p.P117S

c.349C>T

1 paper

NM_031475.3

p.G138G

c.414C>G

1 paper

NM_031475.3

p.A139T

c.415G>A

1 paper

NM_031475.3

p.A139P

c.415G>C

2 papers

NM_031475.3

p.R113H

c.338G>A