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.E2025K

c.6073G>A

Surrounding Variants

1 paper

NM_020987.5

p.A2023T

c.6067G>A

2 papers

NM_020987.5

p.V2016M

c.6046G>A

1 paper

NM_020987.5

p.Y2036H

c.6106T>C

1 paper

NM_020987.5

p.P2010delFs

c.6029delG

1 paper

NM_020987.5

p.P2010fs

c.6028_6029fs

1 paper

NM_020987.5

p.S2043N

c.6128G>A

1 paper

NM_020987.5

p.A2006V

c.6017C>T

2 papers

NM_020987.5

p.A2004V

c.6011C>T

1 paper

NM_020987.5

p.Q2003L

c.6008A>T

2 papers

NM_020987.5

p.R1998W

c.5992C>T

4 papers

NM_020987.5

p.S1994L

c.5981C>T

1 paper

NM_020987.5

p.S1993R

c.5979T>G