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.F3515L

c.10545T>G

Surrounding Variants

1 paper

NM_020987.5

p.F3515L

c.10545T>A

1 paper

NM_020987.5

p.F3515L

c.10543T>C

1 paper

NM_020987.5

p.P3516L

c.10547C>T

1 paper

NM_020987.5

p.S3521G

c.10561A>G

1 paper

NM_020987.5

p.T3504_L3505del0

c.10510_10515del6

1 paper

NM_020987.5

p.T3504S

c.10510A>T

1 paper

NM_020987.5

p.P3491S

c.10471C>T

1 paper

NM_020987.5

p.S3482insFs

c.10444dupT

1 paper

NM_020987.5

p.E3553K

c.10657G>A

1 paper

NM_020987.5

p.V3554A

c.10661T>C

1 paper

NM_020987.5

p.K3472fs

c.10414_10415fs

1 paper

NM_020987.5

p.E3470K

c.10408G>A