Varaico: Literature-Extracted Genetic Variants

ANK2

704 papers

RefSeq Summary

This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell ...

Pfam Domains

Ank_2aa 14–106UCSCAnkyrin repeats (3 copies)

Ankaa 63–95UCSCAnkyrin repeat

Ankaa 96–128UCSCAnkyrin repeat

Ank_2aa 98–171UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin 2

HGNC Previous Symbol

LQT4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001148.6

p.K3898_V3899Splc

c.11694+19T>A

Surrounding Variants

1 paper

NM_020977.5

p.K1813E

c.5437A>G

3 papers

NM_001148.6

p.V3895M

c.11683G>A

1 paper

NM_001148.6

p.G3892G

c.11676A>G

1 paper

NM_001148.6

p.G3892R

c.11674G>A

1 paper

NM_001148.6

p.G3892R

c.11674G>C

2 papers

NM_001148.6

p.H3891H

c.11673T>C

1 paper

NM_001148.6

p.H3891_G3892delins

c.11673_11674delinsCA

2 papers

NM_001148.6

p.E3890G

c.11669A>G

3 papers

NM_001148.6

p.E3884K

c.11650G>A

1 paper

NM_001148.6

p.T3881A

c.11641A>G

1 paper

NM_001148.6

p.D3872E

c.11616C>A

1 paper

NM_001148.6

p.D3872E

c.11616C>G