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.K3123R

c.9368A>G

Surrounding Variants

1 paper

NM_020987.5

p.K3123Q

c.9367A>C

1 paper

NM_020987.5

p.E3121K

c.9361G>A

1 paper

NM_020987.5

p.Q3120R

c.9359A>G

1 paper

NM_020987.5

p.I3117delFs

c.9349delT

1 paper

NM_020987.5

p.I3117fs

c.9349_9350fs

2 papers

NM_020987.5

p.I3117V

c.9349A>G

1 paper

NM_020987.5

p.G3130R

c.9388G>C

1 paper

NM_020987.5

p.G3130R

c.9388G>A

1 paper

NM_020987.5

p.K3115T

c.9344A>C

1 paper

NM_020987.5

p.V3114A

c.9341T>C

1 paper

NM_020987.5

p.G3112R

c.9334G>C

1 paper

NM_020987.5

p.G3112R

c.9334G>A