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.Q643H

c.1929G>C

Surrounding Variants

1 paper

NM_001148.6

p.Q643H

c.1929G>T

1 paper

NM_001148.6

p.I644K

c.1931T>A

2 papers

NM_001148.6

p.M642L

c.1924A>T

18 papers

NM_001148.6

p.S646F

c.1937C>T

2 papers

NM_001148.6

p.K638del1

c.1912_1913delAAG

1 paper

NM_001148.6

p.N650T

c.1949A>C

1 paper

NM_001148.6

p.A636V

c.1907C>T

2 papers

NM_001148.6

p.L633L

c.1899A>G

1 paper

NM_001148.6

p.P632L

c.1895C>T

1 paper

NM_001148.6

p.P632T

c.1894C>A

1 paper

NM_001148.6

p.K660_G662delFs

c.1979_1985del7

1 paper

NM_001148.6

p.K627_N628Splc

c.1882-8C>G