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

1–12 of 828 variants

12 papers

NM_020987.5

p.S1569A

c.4705T>G

10 papers

NM_020987.5

p.T1861M

c.5582C>T

9 papers

NM_020987.5

p.S2409P

c.7225T>C

8 papers

NM_020987.5

p.P1489S

c.4465C>T

8 papers

NM_020987.5

p.M2271T

c.6812T>C

7 papers

NM_020987.5

p.G664*

c.1990G>T

7 papers

NM_020987.5

p.W1989R

c.5965T>C

7 papers

NM_020987.5

p.W1989R

c.5965T>A

7 papers

NM_020987.5

p.Q2996H

c.8988G>T

7 papers

NM_020987.5

p.Q2996H

c.8988G>C

7 papers

NM_020987.5

p.T3720M

c.11159C>T

7 papers

NM_020987.5

p.T4255P

c.12763A>C