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.V1966A

c.5897T>C

Surrounding Variants

1 paper

NM_020987.5

p.S1973S

c.5919A>T

1 paper

NM_020987.5

p.S1976L

c.5927C>T

1 paper

NM_020987.5

p.V1951L

c.5851G>T

1 paper

NM_020987.5

p.V1951L

c.5851G>C

1 paper

NM_020987.5

p.K1981N

c.5943A>T

1 paper

NM_020987.5

p.K1981N

c.5943A>C

3 papers

NM_020987.5

p.E1949*

c.5845G>T

3 papers

NM_020987.5

p.V1948insFs

c.5843_5844dupTA

1 paper

NM_020987.5

p.E1949Q

c.5845G>C

7 papers

NM_020987.5

p.W1989R

c.5965T>C

7 papers

NM_020987.5

p.W1989R

c.5965T>A

1 paper

NM_020987.5

p.D1941N

c.5821G>A