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.G3690R

c.11068G>A

Surrounding Variants

5 papers

NM_020987.5

p.G3690R

c.11068G>C

5 papers

NM_020987.5

p.S3697C

c.11090C>G

3 papers

NM_020987.5

p.P3678delFs

c.11033delG

4 papers

NM_020987.5

p.P3678fs

c.11032_11033fs

1 paper

NM_020987.5

p.K3704T

c.11111A>C

1 paper

NM_020987.5

p.A3706A

c.11118A>C

2 papers

NM_020987.5

p.T3666fs

c.10996_10997fs

6 papers

NM_020987.5

p.T3666fs

c.10996_10997fs

1 paper

NM_020987.5

p.T3666A

c.10996A>G

6 papers

NM_020987.5

p.T3665delFs

c.10995delG

1 paper

NM_020987.5

p.T3665S

c.10994C>G

1 paper

NM_020987.5

p.T3665S

c.10993A>T