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.H3919P

c.11756A>C

Surrounding Variants

1 paper

NM_020987.5

p.D3921D

c.11763T>C

1 paper

NM_020987.5

p.V3915E

c.11744T>A

1 paper

NM_020987.5

p.A3929T

c.11785G>A

1 paper

NM_020987.5

p.K3942R

c.11825A>G

2 papers

NM_020987.5

p.S3893T

c.11678G>C

1 paper

NM_020987.5

p.T3884S

c.11651C>G

1 paper

NM_020987.5

p.T3884S

c.11650A>T

1 paper

NM_020987.5

p.N3883S

c.11648A>G

1 paper

NM_020987.5

p.T3961A

c.11881A>G

1 paper

NM_020987.5

p.T3965_A3966ins1

c.11895_11896insACC

1 paper

NM_020987.5

p.T3964_T3965del1

c.11892_11894delGTG

2 papers

NM_020987.5

p.A3966T

c.11896G>A