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.G3649R

c.10945G>A

Surrounding Variants

1 paper

NM_020987.5

p.G3649R

c.10945G>C

1 paper

NM_020987.5

p.E3648insFs

c.10942dupG

1 paper

NM_020987.5

p.K3651N

c.10953A>T

1 paper

NM_020987.5

p.K3651N

c.10953A>C

1 paper

NM_020987.5

p.V3654V

c.10962C>A

1 paper

NM_020987.5

p.S3639P

c.10915T>C

4 papers

NM_020987.5

p.H3637R

c.10910A>G

5 papers

NM_020987.5

p.Q3661fs

c.10981_10982fs

5 papers

NM_020987.5

p.Q3661delFs

c.10981_10982delTG

1 paper

NM_020987.5

p.Q3661delFs

c.10982_10983delCT

1 paper

NM_020987.5

p.D3664N

c.10990G>A

1 paper

NM_020987.5

p.T3665S

c.10993A>T