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.D1740E

c.5220C>G

Surrounding Variants

1 paper

NM_001148.6

p.D1740E

c.5220C>A

2 papers

NM_001148.6

p.G1738_E1739del1

c.5213_5215delGTG

1 paper

NM_001148.6

p.A1744S

c.5230G>T

1 paper

NM_001148.6

p.A1744D

c.5231C>A

1 paper

NM_001148.6

p.A1744V

c.5231C>T

1 paper

NM_001148.6

p.P1745R

c.5234C>G

1 paper

NM_001148.6

p.E1746D

c.5238A>C

1 paper

NM_001148.6

p.E1746D

c.5238A>T

1 paper

NM_001148.6

p.K1729fs

c.5185_5186fs

1 paper

NM_001148.6

p.K1729delFs

c.5185delA

1 paper

NM_001148.6

p.A1726D

c.5177C>A

1 paper

NM_001148.6

p.E1760G

c.5279A>G