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.T1479A

c.4435A>G

Surrounding Variants

1 paper

NM_001148.6

p.T1479R

c.4436C>G

2 papers

NM_001148.6

p.S1485F

c.4454C>T

2 papers

NM_001148.6

p.V1486L

c.4456G>C

1 paper

NM_001148.6

p.K1488R

c.4463A>G

1 paper

NM_001148.6

p.L1491fs

c.4471_4472fs

1 paper

NM_001148.6

p.V1497L

c.4489G>C

1 paper

NM_001148.6

p.A1499V

c.4496C>T

1 paper

NM_001148.6

p.P1501L

c.4502C>T

7 papers

NM_001148.6

p.L1503V

c.4507T>G

1 paper

NM_001148.6

p.V1507F

c.4519G>T

1 paper

NM_001148.6

p.A1519S

c.4555G>T

1 paper

NM_001148.6

p.V1525M

c.4573G>A