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.R303C

c.907C>T

Surrounding Variants

1 paper

NM_031475.3

p.D302D

c.906C>T

5 papers

NM_031475.3

p.R303R

c.909C>G

1 paper

NM_031475.3

p.D304Y

c.910G>T

2 papers

NM_031475.3

p.T307A

c.919A>G

1 paper

NM_031475.3

p.D299_V300del2

c.895_899del6

2 papers

NM_031475.3

p.S312L

c.935C>T

1 paper

NM_031475.3

p.N315_G316del2

c.943_947del6

1 paper

NM_031475.3

p.H317P

c.950A>C

1 paper

NM_031475.3

p.H317R

c.950A>G

1 paper

NM_031475.3

p.R325H

c.974G>A

2 papers

NM_031475.3

p.L330_S331Splc

c.990+1G>A

1 paper

NM_031475.3

p.L330_S331Splc

c.990+4C>T