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.W2855R

c.8563T>C

Surrounding Variants

1 paper

NM_020987.5

p.W2855R

c.8563T>A

1 paper

NM_020987.5

p.S2858L

c.8573C>T

1 paper

NM_020987.5

p.K2850N

c.8550G>T

1 paper

NM_020987.5

p.K2850N

c.8550G>C

1 paper

NM_020987.5

p.K2850delFs

c.8549delT

1 paper

NM_020987.5

p.G2845G

c.8535A>C

5 papers

NM_020987.5

p.K2864N

c.8592G>T

5 papers

NM_020987.5

p.K2864N

c.8592G>C

2 papers

NM_020987.5

p.G2845E

c.8534G>A

3 papers

NM_020987.5

p.S2871L

c.8612C>T

1 paper

NM_020987.5

p.H2836Y

c.8506C>T

1 paper

NM_020987.5

p.H2876fs

c.8626_8627fs