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

3 papers

NM_001148.6

p.A1837T

c.5509G>A

Surrounding Variants

1 paper

NM_001148.6

p.A1837fs

c.5509_5510fs

1 paper

NM_001148.6

p.A1837insFs

c.5510_5511insA

1 paper

NM_001148.6

p.L1833V

c.5497C>G

1 paper

NM_001148.6

p.L1833F

c.5497C>T

1 paper

NM_001148.6

p.R1841M

c.5522G>T

4 papers

NM_001148.6

p.P1843S

c.5527C>T

5 papers

NM_001148.6

p.P1844S

c.5530C>T

1 paper

NM_001148.6

p.S1848A

c.5542T>G

1 paper

NM_001148.6

p.S1848*

c.5543C>G

1 paper

NM_001148.6

p.P1823L

c.5468C>T

1 paper

NM_001148.6

p.T1851I

c.5552C>T

1 paper

NM_001148.6

p.G1821V

c.5462G>T