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.E235G

c.704A>G

Surrounding Variants

5 papers

NM_031475.3

p.S234S

c.702C>G

2 papers

NM_031475.3

p.Q236E

c.706C>G

1 paper

NM_031475.3

p.Q236R

c.707A>G

1 paper

NM_031475.3

p.A241_T242delFs

c.721_724del4

1 paper

NM_031475.3

p.T229S

c.685A>T

1 paper

NM_031475.3

p.L225_V226Splc

c.676-6G>C

1 paper

NM_031475.3

p.L225_V226Splc

c.676-10T>C

1 paper

NM_031475.3

p.L225_V226Splc

c.676-10T>G

4 papers

NM_031475.3

p.G251D

c.752G>A

1 paper

NM_031475.3

p.T253S

c.757A>T

1 paper

NM_031475.3

p.T253S

c.758C>G

2 papers

NM_031475.3

p.W258*

c.773G>A