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.R760C

c.2278C>T

Surrounding Variants

1 paper

NM_031475.3

p.R760H

c.2279G>A

1 paper

NM_031475.3

p.R760L

c.2279G>T

1 paper

NM_031475.3

p.M762L

c.2284A>C

1 paper

NM_031475.3

p.M762L

c.2284A>T

2 papers

NM_031475.3

p.Q756E

c.2266C>G

1 paper

NM_031475.3

p.R755C

c.2263C>T

1 paper

NM_031475.3

p.K754delFs

c.2260delA

2 papers

NM_031475.3

p.W753R

c.2257T>A

3 papers

NM_031475.3

p.W753R

c.2257T>C

1 paper

NM_031475.3

p.E752delFs

c.2256delG

1 paper

NM_031475.3

p.E768Q

c.2302G>C

1 paper

NM_031475.3

p.E752_V759delFs

c.2254_2275del22