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.R3860S

c.11580G>C

Surrounding Variants

1 paper

NM_020987.5

p.R3860S

c.11580G>T

1 paper

NM_020987.5

p.K3862*

c.11584A>T

1 paper

NM_020987.5

p.K3845N

c.11535A>T

1 paper

NM_020987.5

p.K3845N

c.11535A>C

1 paper

NM_020987.5

p.N3883S

c.11648A>G

1 paper

NM_020987.5

p.T3884S

c.11650A>T

1 paper

NM_020987.5

p.T3884S

c.11651C>G

1 paper

NM_020987.5

p.G3833R

c.11497G>C

1 paper

NM_020987.5

p.G3833R

c.11497G>A

1 paper

NM_020987.5

p.K3831fs

c.11491_11492fs

2 papers

NM_020987.5

p.S3893T

c.11678G>C

1 paper

NM_020987.5

p.P3823Q

c.11468C>A