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.S1917P

c.5749T>C

Surrounding Variants

1 paper

NM_001148.6

p.S1917A

c.5749T>G

2 papers

NM_001148.6

p.P1915L

c.5744C>T

4 papers

NM_001148.6

p.G1920R

c.5758G>A

3 papers

NM_001148.6

p.G1920R

c.5758G>C

1 paper

NM_001148.6

p.G1920E

c.5759G>A

1 paper

NM_001148.6

p.R1913H

c.5738G>A

1 paper

NM_001148.6

p.E1923K

c.5767G>A

1 paper

NM_001148.6

p.K1924fs

c.5770_5771fs

1 paper

NM_001148.6

p.K1924_H1925insFs

c.5772_5773ins5

1 paper

NM_001148.6

p.K1909E

c.5725A>G

1 paper

NM_001148.6

p.H1925P

c.5774A>C

1 paper

NM_001148.6

p.P1926L

c.5777C>T