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

2 papers

NM_001148.6

p.K1556*

c.4666A>T

Surrounding Variants

1 paper

NM_001148.6

p.K1556E

c.4666A>G

1 paper

NM_001148.6

p.V1555D

c.4664T>A

1 paper

NM_001148.6

p.D1558G

c.4673A>G

1 paper

NM_001148.6

p.E1560Q

c.4678G>C

2 papers

NM_001148.6

p.F1549Y

c.4646T>A

1 paper

NM_001148.6

p.E1544D

c.4632G>C

1 paper

NM_001148.6

p.E1544D

c.4632G>T

1 paper

NM_001148.6

p.S1568G

c.4702A>G

1 paper

NM_001148.6

p.E1543K

c.4627G>A

1 paper

NM_001148.6

p.A1540S

c.4618G>T

1 paper

NM_001148.6

p.S1577G

c.4729A>G

1 paper

NM_001148.6

p.K1533Q

c.4597A>C