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

1–12 of 397 variants

9 papers

NM_031475.3

p.D744N

c.2230G>A

7 papers

NM_031475.3

p.R774Q

c.2321G>A

6 papers

NM_031475.3

p.P599_P603del0

c.1797_1808del12

5 papers

NM_031475.3

p.S234S

c.702C>G

5 papers

NM_031475.3

p.R303R

c.909C>G

4 papers

NM_031475.3

p.R113C

c.337C>T

4 papers

NM_031475.3

p.G251D

c.752G>A

4 papers

NM_031475.3

p.P724L

c.2171C>T

4 papers

NM_031475.3

p.T829M

c.2486C>T

3 papers

NM_031475.3

p.G81D

c.242G>A

3 papers

NM_031475.3

p.V97E

c.290T>A

3 papers

NM_031475.3

p.P350S

c.1048C>T