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.T1612A

c.4834A>G

Surrounding Variants

6 papers

NM_001148.6

p.T1612I

c.4835C>T

1 paper

NM_001148.6

p.L1609_E1610delFs

c.4827_4828delAG

1 paper

NM_001148.6

p.L1609_E1610del2

c.4825_4829del6

1 paper

NM_001148.6

p.P1608delFs

c.4824delT

1 paper

NM_001148.6

p.V1617_E1618delFs

c.4851_4852delAG

1 paper

NM_001148.6

p.Q1605H

c.4815A>T

4 papers

NM_001148.6

p.R1604K

c.4811G>A

1 paper

NM_001148.6

p.D1622N

c.4864G>A

3 papers

NM_001148.6

p.K1626E

c.4876A>G

1 paper

NM_001148.6

p.D1597delFs

c.4791delT

2 papers

NM_001148.6

p.G1627R

c.4879G>A

1 paper

NM_001148.6

p.I1594M

c.4782T>G