Varaico: Literature-Extracted Genetic Variants

ANK3

496 papers

RefSeq Summary

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activat...

Pfam Domains

Ank_2aa 46–137UCSCAnkyrin repeats (3 copies)

Ank_2aa 122–202UCSCAnkyrin repeats (3 copies)

Ank_2aa 196–267UCSCAnkyrin repeats (3 copies)

Ank_2aa 259–331UCSCAnkyrin repeats (3 copies)

Ank_2aa 323–397UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin 3

HGNC Previous Name

ankyrin 3, node of Ranvier (ankyrin G)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020987.5

p.G654C

c.1960G>T

Surrounding Variants

1 paper

NM_020987.5

p.T649I

c.1946C>T

1 paper

NM_020987.5

p.A647V

c.1940C>T

1 paper

NM_020987.5

p.R662W

c.1984C>T

7 papers

NM_020987.5

p.G664*

c.1990G>T

1 paper

NM_020987.5

p.G664fs

c.1990_1991fs

2 papers

NM_020987.5

p.N642Y

c.1924A>T

1 paper

NM_020987.5

p.S667A

c.1999T>G

1 paper

NM_020987.5

p.A639V

c.1916C>T

1 paper

NM_020987.5

p.A671S

c.2011G>T

1 paper

NM_020987.5

p.A672V

c.2015C>T

1 paper

NM_020987.5

p.T633R

c.1898C>G

1 paper

NM_020987.5

p.T633A

c.1897A>G