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.S568fs

c.1702_1703fs

Surrounding Variants

1 paper

NM_031475.3

p.P567insFs

c.1701dupC

3 papers

NM_031475.3

p.P570L

c.1709C>T

1 paper

NM_031475.3

p.P571Q

c.1712C>A

1 paper

NM_031475.3

p.P571L

c.1712C>T

1 paper

NM_031475.3

p.G562D

c.1685G>A

1 paper

NM_031475.3

p.R561H

c.1682G>A

2 papers

NM_031475.3

p.R561C

c.1681C>T

1 paper

NM_031475.3

p.G578R

c.1732G>A

1 paper

NM_031475.3

p.L556F

c.1666C>T

1 paper

NM_031475.3

p.C585fs

c.1753_1754fs

3 papers

NM_031475.3

p.A586insFs

c.1757_1758insG

1 paper

NM_031475.3

p.G552_L556insFs

c.1654_1666dup13