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.F1574L

c.4722T>G

Surrounding Variants

1 paper

NM_020987.5

p.F1574L

c.4722T>A

1 paper

NM_020987.5

p.R1575W

c.4723C>T

1 paper

NM_020987.5

p.F1574L

c.4720T>C

1 paper

NM_020987.5

p.S1573F

c.4718C>T

1 paper

NM_020987.5

p.S1578Y

c.4733C>A

1 paper

NM_020987.5

p.I1571V

c.4711A>G

1 paper

NM_020987.5

p.S1579L

c.4736C>T

12 papers

NM_020987.5

p.S1569A

c.4705T>G

1 paper

NM_020987.5

p.V1567M

c.4699G>A

1 paper

NM_020987.5

p.T1558T

c.4674A>G

1 paper

NM_020987.5

p.S1595S

c.4785C>G

1 paper

NM_020987.5

p.S1544L

c.4631C>T