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.S2483L

c.7448C>T

Surrounding Variants

1 paper

NM_020987.5

p.P2490_P2491insT

c.7468_7472ins3

5 papers

NM_020987.5

p.P2490L

c.7469C>T

1 paper

NM_020987.5

p.P2490P

c.7470C>T

1 paper

NM_020987.5

p.E2447K

c.7339G>A

1 paper

NM_020987.5

p.N2525delFs

c.7574delT

1 paper

NM_020987.5

p.S2434A

c.7300T>G

6 papers

NM_020987.5

p.R2423C

c.7267C>T

1 paper

NM_020987.5

p.Y2544F

c.7631A>T

1 paper

NM_020987.5

p.S2545Y

c.7634C>A

1 paper

NM_020987.5

p.G2546D

c.7637G>A

3 papers

NM_020987.5

p.S2417A

c.7249T>G

1 paper

NM_020987.5

p.S2550I

c.7649G>T