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.S2843R

c.8529C>G

Surrounding Variants

1 paper

NM_001148.6

p.S2843R

c.8529C>A

1 paper

NM_001148.6

p.S2843R

c.8527A>C

1 paper

NM_001148.6

p.S2845L

c.8534C>T

1 paper

NM_001148.6

p.P2840L

c.8519C>T

1 paper

NM_001148.6

p.P2851L

c.8552C>T

9 papers

NM_001148.6

p.P2835S

c.8503C>T

1 paper

NM_001148.6

p.E2857K

c.8569G>A

1 paper

NM_001148.6

p.V2829L

c.8485G>C

1 paper

NM_001148.6

p.E2860K

c.8578G>A

1 paper

NM_001148.6

p.T2822fs

c.8464_8465fs

1 paper

NM_001148.6

p.T2822delFs

c.8465_8466delCA

1 paper

NM_001148.6

p.S2869_Q2872delFs

c.8605_8614del10