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.F2249L

c.6745T>C

Surrounding Variants

1 paper

NM_001148.6

p.F2249L

c.6747C>A

1 paper

NM_001148.6

p.F2249L

c.6747C>G

1 paper

NM_001148.6

p.S2250P

c.6748T>C

1 paper

NM_001148.6

p.L2247I

c.6739C>A

1 paper

NM_001148.6

p.K2253_S2254delFs

c.6757_6761del5

1 paper

NM_001148.6

p.K2253*

c.6757A>T

2 papers

NM_001148.6

p.T2242M

c.6725C>T

1 paper

NM_001148.6

p.P2240R

c.6719C>G

1 paper

NM_001148.6

p.E2260V

c.6779A>T

1 paper

NM_001148.6

p.K2262E

c.6784A>G

1 paper

NM_001148.6

p.K2232R

c.6695A>G

1 paper

NM_001148.6

p.S2230S

c.6690C>T