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.R3457C

c.10369C>T

Surrounding Variants

1 paper

NM_020987.5

p.A3455T

c.10363G>A

1 paper

NM_020987.5

p.Q3461*

c.10381C>T

1 paper

NM_020987.5

p.V3466D

c.10397T>A

2 papers

NM_020987.5

p.E3469K

c.10405G>A

1 paper

NM_020987.5

p.E3470K

c.10408G>A

1 paper

NM_020987.5

p.K3472fs

c.10414_10415fs

1 paper

NM_020987.5

p.P3435S

c.10303C>T

1 paper

NM_020987.5

p.P3435T

c.10303C>A

1 paper

NM_020987.5

p.L3434_P3435delins

c.10302_10303delinsAT

1 paper

NM_020987.5

p.S3482insFs

c.10444dupT

1 paper

NM_020987.5

p.E3429V

c.10286A>T

1 paper

NM_020987.5

p.P3491S

c.10471C>T