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.D2610fs

c.7828_7829fs

Surrounding Variants

1 paper

NM_001148.6

p.D2610H

c.7828G>C

2 papers

NM_001148.6

p.D2610fs

c.7828_7829fs

4 papers

NM_001148.6

p.D2610delFs

c.7828delG

2 papers

NM_001148.6

p.Y2611H

c.7831T>C

1 paper

NM_001148.6

p.Q2607R

c.7820A>G

1 paper

NM_001148.6

p.E2614*

c.7840G>T

1 paper

NM_001148.6

p.P2615H

c.7844C>A

1 paper

NM_001148.6

p.K2590E

c.7768A>G

1 paper

NM_001148.6

p.V2634V

c.7902G>A

1 paper

NM_001148.6

p.P2584R

c.7751C>G

1 paper

NM_001148.6

p.H2639D

c.7915C>G

1 paper

NM_001148.6

p.S2642delFs

c.7924delA