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.I3516T

c.10547T>C

Surrounding Variants

1 paper

NM_001148.6

p.A3510S

c.10528G>T

1 paper

NM_001148.6

p.H3526insFs

c.10576_10577dupCA

1 paper

NM_001148.6

p.D3540Y

c.10618G>T

1 paper

NM_001148.6

p.E3541insFs

c.10621_10622dupGA

1 paper

NM_001148.6

p.I3543V

c.10627A>G

1 paper

NM_001148.6

p.L3488delFs

c.10463delT

2 papers

NM_001148.6

p.A3485T

c.10453G>A

2 papers

NM_001148.6

p.R3549C

c.10645C>T

1 paper

NM_001148.6

p.N3554Y

c.10660A>T

1 paper

NM_001148.6

p.E3476K

c.10426G>A

1 paper

NM_001148.6

p.I3475V

c.10423A>G

1 paper

NM_001148.6

p.F3467L

c.10401C>A