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.A3312V

c.9935C>T

Surrounding Variants

1 paper

NM_020987.5

p.S3318R

c.9952A>C

1 paper

NM_020987.5

p.S3318R

c.9954C>G

1 paper

NM_020987.5

p.S3318R

c.9954C>A

1 paper

NM_020987.5

p.D3320D

c.9960C>T

1 paper

NM_020987.5

p.Y3324C

c.9971A>G

1 paper

NM_020987.5

p.T3333S

c.9997A>T

1 paper

NM_020987.5

p.T3333S

c.9998C>G

1 paper

NM_020987.5

p.D3291G

c.9872A>G

1 paper

NM_020987.5

p.H3290Y

c.9868C>T

1 paper

NM_020987.5

p.K3348E

c.10042A>G

3 papers

NM_020987.5

p.E3352G

c.10055A>G

1 paper

NM_020987.5

p.Q3264K

c.9790C>A