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.S356L

c.1067C>T

Surrounding Variants

2 papers

NM_031475.3

p.P357S

c.1069C>T

1 paper

NM_031475.3

p.M354T

c.1061T>C

1 paper

NM_031475.3

p.P350R

c.1049C>G

1 paper

NM_031475.3

p.S362W

c.1085C>G

3 papers

NM_031475.3

p.P350S

c.1048C>T

2 papers

NM_031475.3

p.E346K

c.1036G>A

1 paper

NM_031475.3

p.L345R

c.1034T>G

1 paper

NM_031475.3

p.F368L

c.1102T>C

1 paper

NM_031475.3

p.F368L

c.1104T>A

1 paper

NM_031475.3

p.F368L

c.1104T>G

1 paper

NM_031475.3

p.A343T

c.1027G>A

1 paper

NM_031475.3

p.S342F

c.1025C>T