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

4 papers

NM_020987.5

p.L3218F

c.9652C>T

Surrounding Variants

1 paper

NM_020987.5

p.E3210_E3211ins0

c.9630_9632dupGGA

2 papers

NM_020987.5

p.E3225K

c.9673G>A

1 paper

NM_020987.5

p.R3230C

c.9688C>T

1 paper

NM_020987.5

p.R3230H

c.9689G>A

1 paper

NM_020987.5

p.E3205Q

c.9613G>C

1 paper

NM_020987.5

p.N3247S

c.9740A>G

2 papers

NM_020987.5

p.K3184R

c.9551A>G

2 papers

NM_020987.5

p.E3253V

c.9758A>T

1 paper

NM_020987.5

p.P3259T

c.9775C>A

1 paper

NM_020987.5

p.P3172S

c.9514C>T

1 paper

NM_020987.5

p.Q3264K

c.9790C>A

1 paper

NM_020987.5

p.P3169S

c.9505C>T