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.V2369F

c.7105G>T

Surrounding Variants

12 papers

NM_001148.6

p.V2369A

c.7106T>C

1 paper

NM_001148.6

p.V2369_Q2370delins

c.7106_7110delinsCTCAG

1 paper

NM_001148.6

p.E2368K

c.7102G>A

3 papers

NM_001148.6

p.Q2370Q

c.7110A>G

1 paper

NM_001148.6

p.E2371K

c.7111G>A

6 papers

NM_001148.6

p.T2373A

c.7117A>G

1 paper

NM_001148.6

p.A2374S

c.7120G>T

1 paper

NM_001148.6

p.K2362Q

c.7084A>C

8 papers

NM_001148.6

p.E2378K

c.7132G>A

1 paper

NM_001148.6

p.E2378Q

c.7132G>C

2 papers

NM_001148.6

p.T2379K

c.7136C>A

1 paper

NM_001148.6

p.T2379I

c.7136C>T