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.K2213N

c.6639A>C

Surrounding Variants

1 paper

NM_020987.5

p.K2213N

c.6639A>T

1 paper

NM_020987.5

p.Q2220P

c.6659A>C

1 paper

NM_020987.5

p.E2202delFs

c.6604delC

1 paper

NM_020987.5

p.D2228H

c.6682G>C

1 paper

NM_020987.5

p.R2232W

c.6694C>T

1 paper

NM_020987.5

p.V2233F

c.6697G>T

1 paper

NM_020987.5

p.P2191A

c.6571C>G

1 paper

NM_020987.5

p.R2239C

c.6715C>T

3 papers

NM_020987.5

p.Q2185H

c.6555G>T

3 papers

NM_020987.5

p.Q2185H

c.6555G>C

1 paper

NM_020987.5

p.H2245R

c.6734A>G

1 paper

NM_020987.5

p.E2261*

c.6781G>T