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.M2722I

c.8166G>A

Surrounding Variants

1 paper

NM_001148.6

p.M2722I

c.8166G>C

1 paper

NM_001148.6

p.M2722I

c.8166G>T

1 paper

NM_001148.6

p.M2722T

c.8165T>C

2 papers

NM_001148.6

p.E2728K

c.8182G>A

1 paper

NM_001148.6

p.S2715F

c.8144C>T

1 paper

NM_001148.6

p.V2714I

c.8140G>A

1 paper

NM_001148.6

p.F2710V

c.8128T>G

3 papers

NM_001148.6

p.V2708A

c.8123T>C

1 paper

NM_001148.6

p.E2707K

c.8119G>A

1 paper

NM_001148.6

p.E2706Q

c.8116G>C

1 paper

NM_001148.6

p.N2702I

c.8105A>T

1 paper

NM_001148.6

p.M2699I

c.8097G>A