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.A2insFs

c.6dupC

Surrounding Variants

1 paper

NM_031475.3

p.M1insFs

c.2_3insT

1 paper

NM_031475.3

p.E4E

c.12G>A

1 paper

NM_031475.3

p.Q12delFs

c.34delC

1 paper

NM_031475.3

p.Q12delFs

c.35delA

1 paper

NM_031475.3

p.G13D

c.38G>A

1 paper

NM_031475.3

p.E14_L18delFs

c.42_52del11

1 paper

NM_031475.3

p.S30W

c.89C>G

2 papers

NM_031475.3

p.R32C

c.94C>T

1 paper

NM_031475.3

p.P34S

c.100C>T

1 paper

NM_031475.3

p.A37T

c.109G>A

1 paper

NM_031475.3

p.H41H

c.123C>T

1 paper

NM_031475.3

p.H42_L52del11

c.124_155del33