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.Q1443R

c.4328A>G

Surrounding Variants

1 paper

NM_001148.6

p.L1440L

c.4320G>A

2 papers

NM_001148.6

p.G1439S

c.4315G>A

5 papers

NM_001148.6

p.G1439C

c.4315G>T

5 papers

NM_001148.6

p.T1437M

c.4310C>T

1 paper

NM_001148.6

p.E1433E

c.4299G>A

1 paper

NM_001148.6

p.K1457K

c.4371G>A

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4371+5C>A

1 paper

NM_001148.6

p.R1427*

c.4279C>T

1 paper

NM_001148.6

p.K1457_E1458Splc

c.4371+6G>A

1 paper

NM_001148.6

p.G1426V

c.4277G>T

1 paper

NM_001148.6

p.G1426R

c.4276G>A

1 paper

NM_001148.6

p.G1426R

c.4276G>C