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.N69H

c.205A>C

Surrounding Variants

1 paper

NM_031475.3

p.G70delFs

c.208delG

1 paper

NM_031475.3

p.P73A

c.217C>G

1 paper

NM_031475.3

p.A63S

c.187G>T

1 paper

NM_031475.3

p.D76Y

c.226G>T

1 paper

NM_031475.3

p.A59_A64delFs

c.176_191del16

3 papers

NM_031475.3

p.G81D

c.242G>A

2 papers

NM_031475.3

p.V56delFs

c.167delT

2 papers

NM_031475.3

p.A84S

c.250G>T

1 paper

NM_031475.3

p.A84V

c.251C>T

1 paper

NM_031475.3

p.Q87*

c.259C>T

1 paper

NM_031475.3

p.K48R

c.143A>G

1 paper

NM_031475.3

p.L90P

c.269T>C