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.S3332R

c.9996T>A

Surrounding Variants

1 paper

NM_001148.6

p.S3332R

c.9996T>G

1 paper

NM_001148.6

p.S3332R

c.9994A>C

1 paper

NM_001148.6

p.A3339V

c.10016C>T

1 paper

NM_001148.6

p.D3340G

c.10019A>G

1 paper

NM_001148.6

p.D3340E

c.10020T>A

1 paper

NM_001148.6

p.D3340E

c.10020T>G

1 paper

NM_001148.6

p.P3344delins

c.10030_10031delinsAA

1 paper

NM_001148.6

p.K3345M

c.10034A>T

1 paper

NM_001148.6

p.E3320Q

c.9958G>C

1 paper

NM_001148.6

p.V3352L

c.10054G>C

1 paper

NM_001148.6

p.V3352L

c.10054G>T

1 paper

NM_001148.6

p.P3310L

c.9929C>T