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.T676delFs

c.2027_2028delCA

Surrounding Variants

1 paper

NM_031475.3

p.T676fs

c.2026_2027fs

1 paper

NM_031475.3

p.T676R

c.2027C>G

1 paper

NM_031475.3

p.L674L

c.2020C>T

1 paper

NM_031475.3

p.G673insFs

c.2019dupG

1 paper

NM_031475.3

p.G680D

c.2039G>A

1 paper

NM_031475.3

p.P669P

c.2007C>A

2 papers

NM_031475.3

p.P669L

c.2006C>T

1 paper

NM_031475.3

p.I681_Q687delFs

c.2043_2061del19

1 paper

NM_031475.3

p.G682fs

c.2044_2045fs

2 papers

NM_031475.3

p.T668M

c.2003C>T

1 paper

NM_031475.3

p.P684L

c.2051C>T

1 paper

NM_031475.3

p.A685T

c.2053G>A