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.A3570V

c.10709C>T

Surrounding Variants

1 paper

NM_020987.5

p.G3568E

c.10703G>A

1 paper

NM_020987.5

p.R3574C

c.10720C>T

1 paper

NM_020987.5

p.A3577V

c.10730C>T

2 papers

NM_020987.5

p.E3563G

c.10688A>G

2 papers

NM_020987.5

p.T3583M

c.10748C>T

1 paper

NM_020987.5

p.V3554A

c.10661T>C

1 paper

NM_020987.5

p.E3553K

c.10657G>A

1 paper

NM_020987.5

p.P3602S

c.10804C>T

1 paper

NM_020987.5

p.M3611V

c.10831A>G

1 paper

NM_020987.5

p.G3615A

c.10844G>C

1 paper

NM_020987.5

p.S3521G

c.10561A>G

1 paper

NM_020987.5

p.P3516L

c.10547C>T