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

7 papers

NM_020987.5

p.T4255P

c.12763A>C

Surrounding Variants

1 paper

NM_020987.5

p.I4257V

c.12769A>G

1 paper

NM_020987.5

p.Y4240H

c.12718T>C

1 paper

NM_020987.5

p.Q4277E

c.12829C>G

NM_001204403.2

p.Q1761E

c.5281C>G

1 paper

NM_020987.5

p.Q4232L

c.12695A>T

1 paper

NM_020987.5

p.E4281K

c.12841G>A

1 paper

NM_020987.5

p.K4305fs

c.12913_12914fs

1 paper

NM_020987.5

p.K4305_E4316delFs

c.12915_12948del34

1 paper

NM_020987.5

p.R4331G

c.12991A>G

1 paper

NM_020987.5

p.S4342R

c.13024A>C

1 paper

NM_020987.5

p.S4342R

c.13026C>G

1 paper

NM_020987.5

p.S4342R

c.13026C>A

2 papers

NM_020987.5

p.H4344Y

c.13030C>T