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.S3051C

c.9152C>G

Surrounding Variants

1 paper

NM_020987.5

p.P3049S

c.9145C>T

1 paper

NM_020987.5

p.F3054V

c.9160T>G

1 paper

NM_020987.5

p.E3039K

c.9115G>A

1 paper

NM_020987.5

p.F3066F

c.9198C>T

1 paper

NM_020987.5

p.A3081D

c.9242C>A

1 paper

NM_020987.5

p.V3004A

c.9011T>C

1 paper

NM_020987.5

p.K3103R

c.9308A>G

7 papers

NM_020987.5

p.Q2996H

c.8988G>T

7 papers

NM_020987.5

p.Q2996H

c.8988G>C

1 paper

NM_020987.5

p.G3112R

c.9334G>C

1 paper

NM_020987.5

p.G3112R

c.9334G>A

1 paper

NM_020987.5

p.V3114A

c.9341T>C