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.K2616E

c.7846A>G

Surrounding Variants

1 paper

NM_020987.5

p.N2617fs

c.7849_7850fs

2 papers

NM_020987.5

p.R2614H

c.7841G>A

1 paper

NM_020987.5

p.L2606V

c.7816C>G

1 paper

NM_020987.5

p.L2602R

c.7805T>G

1 paper

NM_020987.5

p.R2596C

c.7786C>T

5 papers

NM_020987.5

p.N2643S

c.7928A>G

1 paper

NM_020987.5

p.A2649G

c.7946C>G

2 papers

NM_020987.5

p.R2579K

c.7736G>A

1 paper

NM_020987.5

p.G2653D

c.7958G>A

1 paper

NM_020987.5

p.E2574K

c.7720G>A

1 paper

NM_020987.5

p.Y2573*

c.7719T>G

1 paper

NM_020987.5

p.Y2573*

c.7719T>A