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.S2777R

c.8329A>C

Surrounding Variants

1 paper

NM_020987.5

p.S2777N

c.8330G>A

1 paper

NM_020987.5

p.S2777R

c.8331T>G

1 paper

NM_020987.5

p.S2777R

c.8331T>A

1 paper

NM_020987.5

p.D2775N

c.8323G>A

2 papers

NM_020987.5

p.V2758I

c.8272G>A

1 paper

NM_020987.5

p.N2797Y

c.8389A>T

1 paper

NM_020987.5

p.N2797N

c.8391C>T

1 paper

NM_020987.5

p.E2798K

c.8392G>A

1 paper

NM_020987.5

p.T2726I

c.8177C>T

1 paper

NM_020987.5

p.G2725D

c.8174G>A

1 paper

NM_020987.5

p.R2719T

c.8156G>C

1 paper

NM_020987.5

p.H2836Y

c.8506C>T