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

9 papers

NM_020987.5

p.S2409P

c.7225T>C

Surrounding Variants

3 papers

NM_020987.5

p.S2417A

c.7249T>G

1 paper

NM_020987.5

p.E2401*

c.7201G>T

1 paper

NM_020987.5

p.E2400*

c.7198G>T

1 paper

NM_020987.5

p.E2396ins0

c.7186_7188dupGAA

1 paper

NM_020987.5

p.E2396del1

c.7186_7188delTTC

6 papers

NM_020987.5

p.R2423C

c.7267C>T

1 paper

NM_020987.5

p.G2390D

c.7169G>A

1 paper

NM_020987.5

p.G2390S

c.7168G>A

1 paper

NM_020987.5

p.S2386P

c.7156T>C

1 paper

NM_020987.5

p.S2434A

c.7300T>G

1 paper

NM_020987.5

p.A2382T

c.7144G>A

1 paper

NM_020987.5

p.F2375V

c.7123T>G