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.S2422N

c.7265G>A

Surrounding Variants

1 paper

NM_001148.6

p.A2423T

c.7267G>A

2 papers

NM_001148.6

p.E2419K

c.7255G>A

1 paper

NM_001148.6

p.R2416G

c.7246C>G

1 paper

NM_001148.6

p.V2431M

c.7291G>A

1 paper

NM_001148.6

p.P2406H

c.7217C>A

2 papers

NM_001148.6

p.S2440N

c.7319G>A

1 paper

NM_001148.6

p.L2443R

c.7328T>G

3 papers

NM_001148.6

p.D2445G

c.7334A>G

2 papers

NM_001148.6

p.T2395P

c.7183A>C

2 papers

NM_001148.6

p.S2454Fs

c.7360_7361delinsAFs

2 papers

NM_001148.6

p.K2390Q

c.7168A>C

1 paper

NM_001148.6

p.A2387T

c.7159G>A