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

3 papers

NM_020987.5

p.Q2185H

c.6555G>C

Surrounding Variants

3 papers

NM_020987.5

p.Q2185H

c.6555G>T

1 paper

NM_020987.5

p.P2191A

c.6571C>G

1 paper

NM_020987.5

p.E2202delFs

c.6604delC

1 paper

NM_020987.5

p.T2163A

c.6487A>G

1 paper

NM_020987.5

p.I2158T

c.6473T>C

1 paper

NM_020987.5

p.K2213N

c.6639A>T

1 paper

NM_020987.5

p.K2213N

c.6639A>C

1 paper

NM_020987.5

p.P2157S

c.6469C>T

1 paper

NM_020987.5

p.Q2220P

c.6659A>C

1 paper

NM_020987.5

p.S2146R

c.6438C>G

1 paper

NM_020987.5

p.S2146R

c.6438C>A

1 paper

NM_020987.5

p.S2146T

c.6437G>C