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.S382C

c.1145C>G

Surrounding Variants

1 paper

NM_031475.3

p.S384_S386ins1

c.1150_1158dup9

1 paper

NM_031475.3

p.S382_C383del2

c.1144_1148del6

1 paper

NM_031475.3

p.Y380fs

c.1138_1139fs

1 paper

NM_031475.3

p.N379S

c.1136A>G

1 paper

NM_031475.3

p.S385_S386insFs

c.1155_1156insA

1 paper

NM_031475.3

p.H387N

c.1159C>A

1 paper

NM_031475.3

p.L377I

c.1129C>A

1 paper

NM_031475.3

p.I390S

c.1169T>G

2 papers

NM_031475.3

p.S372L

c.1115C>T

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.P396P

c.1188A>C