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.E1667*

c.4999G>T

Surrounding Variants

1 paper

NM_001148.6

p.Q1659H

c.4977A>T

2 papers

NM_001148.6

p.E1676G

c.5027A>G

1 paper

NM_001148.6

p.E1678K

c.5032G>A

1 paper

NM_001148.6

p.P1651H

c.4952C>A

1 paper

NM_001148.6

p.P1684Q

c.5051C>A

1 paper

NM_001148.6

p.P1649H

c.4946C>A

1 paper

NM_001148.6

p.P1649A

c.4945C>G

1 paper

NM_001148.6

p.T1687K

c.5060C>A

1 paper

NM_001148.6

p.T1646I

c.4937C>T

1 paper

NM_001148.6

p.Q1688H

c.5064G>C

1 paper

NM_001148.6

p.Q1688H

c.5064G>T

1 paper

NM_001148.6

p.Q1693L

c.5078A>T