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.H2296R

c.6887A>G

Surrounding Variants

2 papers

NM_020987.5

p.K2306E

c.6916A>G

1 paper

NM_020987.5

p.D2285N

c.6853G>A

1 paper

NM_020987.5

p.R2284R

c.6850C>A

1 paper

NM_020987.5

p.K2278Q

c.6832A>C

1 paper

NM_020987.5

p.K2318R

c.6953A>G

1 paper

NM_020987.5

p.H2274R

c.6821A>G

5 papers

NM_020987.5

p.D2319N

c.6955G>A

8 papers

NM_020987.5

p.M2271T

c.6812T>C

2 papers

NM_020987.5

p.M2322I

c.6966G>T

2 papers

NM_020987.5

p.M2322I

c.6966G>C

2 papers

NM_020987.5

p.M2322I

c.6966G>A

1 paper

NM_020987.5

p.R2328C

c.6982C>T