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.A586insFs

c.1757_1758insG

Surrounding Variants

3 papers

NM_031475.3

p.A587V

c.1760C>T

1 paper

NM_031475.3

p.C585fs

c.1753_1754fs

1 paper

NM_031475.3

p.K590T

c.1769A>C

1 paper

NM_031475.3

p.K590R

c.1769A>G

1 paper

NM_031475.3

p.A591G

c.1772C>G

1 paper

NM_031475.3

p.A591V

c.1772C>T

1 paper

NM_031475.3

p.G578R

c.1732G>A

6 papers

NM_031475.3

p.P599_P603del0

c.1797_1808del12

1 paper

NM_031475.3

p.P596P

c.1788A>C

1 paper

NM_031475.3

p.P604_P605ins0

c.1812_1814dupGCC

1 paper

NM_031475.3

p.P602_P613del0

c.1806_1838del33

1 paper

NM_031475.3

p.P571Q

c.1712C>A