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.V736M

c.2206G>A

Surrounding Variants

1 paper

NM_031475.3

p.D735E

c.2205C>A

1 paper

NM_031475.3

p.D735E

c.2205C>G

1 paper

NM_031475.3

p.L739V

c.2215C>G

2 papers

NM_031475.3

p.T742P

c.2224A>C

1 paper

NM_031475.3

p.T742M

c.2225C>T

1 paper

NM_031475.3

p.H743Y

c.2227C>T

1 paper

NM_031475.3

p.P728S

c.2182C>T

9 papers

NM_031475.3

p.D744N

c.2230G>A

4 papers

NM_031475.3

p.P724L

c.2171C>T

1 paper

NM_031475.3

p.P724S

c.2170C>T

1 paper

NM_031475.3

p.V723M

c.2167G>A

1 paper

NM_031475.3

p.E752_V759delFs

c.2254_2275del22