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.Q2362H

c.7086G>C

Surrounding Variants

1 paper

NM_020987.5

p.Q2362H

c.7086G>T

3 papers

NM_020987.5

p.S2366P

c.7096T>C

1 paper

NM_020987.5

p.G2368E

c.7103G>A

1 paper

NM_020987.5

p.E2355G

c.7064A>G

1 paper

NM_020987.5

p.N2371D

c.7111A>G

1 paper

NM_020987.5

p.K2352delFs

c.7055delT

1 paper

NM_020987.5

p.K2352fs

c.7054_7055fs

1 paper

NM_020987.5

p.T2350delFs

c.7048_7049delGT

1 paper

NM_020987.5

p.F2375V

c.7123T>G

1 paper

NM_020987.5

p.T2350fs

c.7048_7049fs

1 paper

NM_020987.5

p.I2346N

c.7037T>A

1 paper

NM_020987.5

p.V2345G

c.7034T>G