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.A1869A

c.5607G>A

Surrounding Variants

1 paper

NM_001148.6

p.T1863M

c.5588C>T

1 paper

NM_001148.6

p.P1859T

c.5575C>A

5 papers

NM_001148.6

p.V1857E

c.5570T>A

1 paper

NM_001148.6

p.S1884L

c.5651C>T

1 paper

NM_001148.6

p.T1851I

c.5552C>T

1 paper

NM_001148.6

p.R1889G

c.5665A>G

1 paper

NM_001148.6

p.S1848*

c.5543C>G

1 paper

NM_001148.6

p.S1848A

c.5542T>G

1 paper

NM_001148.6

p.P1892A

c.5674C>G

1 paper

NM_001148.6

p.V1893L

c.5677G>C

1 paper

NM_001148.6

p.V1893L

c.5677G>T

1 paper

NM_001148.6

p.V1893A

c.5678T>C