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.G673R

c.2017G>A

Surrounding Variants

1 paper

NM_001148.6

p.G673R

c.2017G>C

1 paper

NM_001148.6

p.Q671*

c.2011C>T

1 paper

NM_001148.6

p.A669V

c.2006C>T

1 paper

NM_001148.6

p.D676E

c.2028T>A

1 paper

NM_001148.6

p.D676E

c.2028T>G

1 paper

NM_001148.6

p.M677V

c.2029A>G

1 paper

NM_001148.6

p.A669T

c.2005G>A

1 paper

NM_001148.6

p.V678A

c.2033T>C

1 paper

NM_001148.6

p.T679T

c.2037C>T

1 paper

NM_001148.6

p.L666F

c.1996C>T

1 paper

NM_001148.6

p.P665S

c.1993C>T

1 paper

NM_001148.6

p.L681P

c.2042T>C