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.T649T

c.1947G>A

Surrounding Variants

1 paper

NM_031475.3

p.T649M

c.1946C>T

1 paper

NM_031475.3

p.D651N

c.1951G>A

1 paper

NM_031475.3

p.M646R

c.1937T>G

1 paper

NM_031475.3

p.S653L

c.1958C>T

1 paper

NM_031475.3

p.M645R

c.1934T>G

1 paper

NM_031475.3

p.A657A

c.1971T>G

1 paper

NM_031475.3

p.E658K

c.1972G>A

1 paper

NM_031475.3

p.T640S

c.1919C>G

1 paper

NM_031475.3

p.T640S

c.1918A>T

1 paper

NM_031475.3

p.S639Splc

c.1916-1G>C

1 paper

NM_031475.3

p.K663Q

c.1987A>C

1 paper

NM_031475.3

p.K663fs

c.1987_1988fs