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

2 papers

NM_001148.6

p.K2076N

c.6228G>C

Surrounding Variants

2 papers

NM_001148.6

p.K2076N

c.6228G>T

1 paper

NM_001148.6

p.V2075A

c.6224T>C

6 papers

NM_001148.6

p.R2069H

c.6206G>A

2 papers

NM_001148.6

p.R2069C

c.6205C>T

1 paper

NM_001148.6

p.S2064T

c.6190T>A

1 paper

NM_001148.6

p.E2063Q

c.6187G>C

1 paper

NM_001148.6

p.I2092M

c.6276A>G

1 paper

NM_001148.6

p.G2060V

c.6179G>T

8 papers

NM_001148.6

p.T2059M

c.6176C>T

1 paper

NM_001148.6

p.P2057L

c.6170C>T

1 paper

NM_001148.6

p.V2096F

c.6286G>T

2 papers

NM_001148.6

p.L2056L

c.6168C>G