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.Q1712H

c.5136G>T

Surrounding Variants

1 paper

NM_001148.6

p.Q1712H

c.5136G>C

1 paper

NM_001148.6

p.P1703S

c.5107C>T

1 paper

NM_001148.6

p.K1701K

c.5103G>A

1 paper

NM_001148.6

p.A1726D

c.5177C>A

1 paper

NM_001148.6

p.L1698M

c.5092T>A

1 paper

NM_001148.6

p.S1697R

c.5091C>A

1 paper

NM_001148.6

p.S1697R

c.5091C>G

1 paper

NM_001148.6

p.S1697R

c.5089A>C

1 paper

NM_001148.6

p.K1729delFs

c.5185delA

1 paper

NM_001148.6

p.K1729fs

c.5185_5186fs

1 paper

NM_001148.6

p.K1695*

c.5083A>T

1 paper

NM_001148.6

p.Q1693L

c.5078A>T