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.R499W

c.1495C>T

Surrounding Variants

2 papers

NM_031475.3

p.G497R

c.1489G>A

1 paper

NM_031475.3

p.G497R

c.1489G>C

1 paper

NM_031475.3

p.G494D

c.1481G>A

1 paper

NM_031475.3

p.G494A

c.1481G>C

1 paper

NM_031475.3

p.D493N

c.1477G>A

2 papers

NM_031475.3

p.C492C

c.1476T>C

1 paper

NM_031475.3

p.R508C

c.1522C>T

1 paper

NM_031475.3

p.L489Q

c.1466T>A

1 paper

NM_031475.3

p.A509S

c.1525G>T

1 paper

NM_031475.3

p.P514T

c.1540C>A

1 paper

NM_031475.3

p.Y520D

c.1558T>G

1 paper

NM_031475.3

p.E529K

c.1585G>A