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.S2657R

c.7971C>G

Surrounding Variants

1 paper

NM_001148.6

p.S2657R

c.7971C>A

1 paper

NM_001148.6

p.S2657R

c.7969A>C

1 paper

NM_001148.6

p.S2657delFs

c.7969delA

1 paper

NM_001148.6

p.S2655L

c.7964C>T

1 paper

NM_001148.6

p.V2660E

c.7979T>A

1 paper

NM_001148.6

p.G2648A

c.7943G>C

1 paper

NM_001148.6

p.P2668T

c.8002C>A

1 paper

NM_001148.6

p.A2671T

c.8011G>A

2 papers

NM_001148.6

p.Q2672P

c.8015A>C

1 paper

NM_001148.6

p.S2642N

c.7925G>A

1 paper

NM_001148.6

p.S2642delFs

c.7924delA

1 paper

NM_001148.6

p.H2639D

c.7915C>G