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.P2057L

c.6170C>T

Surrounding Variants

2 papers

NM_001148.6

p.L2056L

c.6168C>G

8 papers

NM_001148.6

p.T2059M

c.6176C>T

1 paper

NM_001148.6

p.G2060V

c.6179G>T

2 papers

NM_001148.6

p.R2052*

c.6154C>T

1 paper

NM_001148.6

p.E2063Q

c.6187G>C

1 paper

NM_001148.6

p.S2064T

c.6190T>A

3 papers

NM_001148.6

p.I2050T

c.6149T>C

1 paper

NM_001148.6

p.Q2048R

c.6143A>G

1 paper

NM_001148.6

p.N2047insFs

c.6140_6141insGC

1 paper

NM_001148.6

p.N2047fs

c.6139_6140fs

2 papers

NM_001148.6

p.R2069C

c.6205C>T

6 papers

NM_001148.6

p.R2069H

c.6206G>A