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.Q3384H

c.10152G>C

Surrounding Variants

1 paper

NM_020987.5

p.Q3384H

c.10152G>T

1 paper

NM_020987.5

p.D3389N

c.10165G>A

1 paper

NM_020987.5

p.N3380S

c.10139A>G

1 paper

NM_020987.5

p.D3368_N3369delFs

c.10104_10105delTA

1 paper

NM_020987.5

p.D3406G

c.10217A>G

3 papers

NM_020987.5

p.E3352G

c.10055A>G

1 paper

NM_020987.5

p.K3348E

c.10042A>G

1 paper

NM_020987.5

p.E3429V

c.10286A>T

1 paper

NM_020987.5

p.P3435S

c.10303C>T

1 paper

NM_020987.5

p.P3435T

c.10303C>A

1 paper

NM_020987.5

p.L3434_P3435delins

c.10302_10303delinsAT

1 paper

NM_020987.5

p.T3333S

c.9998C>G