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.S1776F

c.5327C>T

Surrounding Variants

1 paper

NM_020987.5

p.P1777T

c.5329C>A

1 paper

NM_020987.5

p.T1770R

c.5309C>G

1 paper

NM_020987.5

p.T1769I

c.5306C>T

1 paper

NM_020987.5

p.S1768C

c.5303C>G

1 paper

NM_020987.5

p.T1760fs

c.5278_5279fs

1 paper

NM_020987.5

p.T1760A

c.5278A>G

1 paper

NM_020987.5

p.A1759insFs

c.5276_5277insTG

1 paper

NM_020987.5

p.A1758delFs

c.5273_5274delTG

1 paper

NM_020987.5

p.A1758fs

c.5272_5273fs

1 paper

NM_020987.5

p.P1795S

c.5383C>T

1 paper

NM_020987.5

p.P1795H

c.5384C>A

1 paper

NM_020987.5

p.S1796P

c.5386T>C