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.S1728F

c.5183C>T

Surrounding Variants

1 paper

NM_020987.5

p.S1727L

c.5180C>T

1 paper

NM_020987.5

p.T1730_L1731ins4

c.5188_5192ins12

1 paper

NM_020987.5

p.P1726A

c.5176C>G

1 paper

NM_020987.5

p.G1734A

c.5201G>C

1 paper

NM_020987.5

p.I1745M

c.5235T>G

1 paper

NM_020987.5

p.H1710P

c.5129A>C

1 paper

NM_020987.5

p.G1709fs

c.5125_5126fs

1 paper

NM_020987.5

p.P1708L

c.5123C>T

1 paper

NM_020987.5

p.A1758fs

c.5272_5273fs

1 paper

NM_020987.5

p.A1758delFs

c.5273_5274delTG

1 paper

NM_020987.5

p.A1759insFs

c.5276_5277insTG

1 paper

NM_020987.5

p.T1760fs

c.5278_5279fs