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.E2032K

c.6094G>A

Surrounding Variants

3 papers

NM_001148.6

p.R2028Q

c.6083G>A

1 paper

NM_001148.6

p.R2028W

c.6082C>T

1 paper

NM_001148.6

p.K2026N

c.6078A>C

1 paper

NM_001148.6

p.K2026N

c.6078A>T

1 paper

NM_001148.6

p.A2042D

c.6125C>A

1 paper

NM_001148.6

p.Q2018fs

c.6052_6053fs

1 paper

NM_001148.6

p.Q2018_K2019delFs

c.6053_6057del5

1 paper

NM_001148.6

p.N2047fs

c.6139_6140fs

1 paper

NM_001148.6

p.N2047insFs

c.6140_6141insGC

1 paper

NM_001148.6

p.Q2048R

c.6143A>G

3 papers

NM_001148.6

p.I2050T

c.6149T>C

1 paper

NM_001148.6

p.H2013Y

c.6037C>T