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.S1844*

c.5531C>A

Surrounding Variants

1 paper

NM_020987.5

p.S1844*

c.5531C>G

1 paper

NM_020987.5

p.L1831F

c.5493G>T

1 paper

NM_020987.5

p.L1831F

c.5493G>C

1 paper

NM_020987.5

p.L1831*

c.5492T>A

10 papers

NM_020987.5

p.T1861M

c.5582C>T

1 paper

NM_020987.5

p.T1861T

c.5583G>A

1 paper

NM_020987.5

p.V1822M

c.5464G>A

1 paper

NM_020987.5

p.S1878S

c.5634A>G

1 paper

NM_020987.5

p.S1879T

c.5635T>A

1 paper

NM_020987.5

p.A1883V

c.5648C>T

1 paper

NM_020987.5

p.S1796P

c.5386T>C

1 paper

NM_020987.5

p.P1795H

c.5384C>A