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

2 papers

NM_031475.3

p.A610P

c.1828G>C

Surrounding Variants

1 paper

NM_031475.3

p.E608G

c.1823A>G

1 paper

NM_031475.3

p.E608Q

c.1822G>C

1 paper

NM_031475.3

p.P602P

c.1806G>A

1 paper

NM_031475.3

p.P602_P613del0

c.1806_1838del33

1 paper

NM_031475.3

p.P604_P605ins0

c.1812_1814dupGCC

2 papers

NM_031475.3

p.P620insFs

c.1859_1860insC

1 paper

NM_031475.3

p.P620S

c.1858C>T

1 paper

NM_031475.3

p.L621fs

c.1861_1862fs

1 paper

NM_031475.3

p.P596P

c.1788A>C

1 paper

NM_031475.3

p.A624T

c.1870G>A

6 papers

NM_031475.3

p.P599_P603del0

c.1797_1808del12

1 paper

NM_031475.3

p.G627S

c.1879G>A