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

3 papers

NM_001148.6

p.L3200F

c.9598C>T

Surrounding Variants

1 paper

NM_001148.6

p.S3196L

c.9587C>T

1 paper

NM_001148.6

p.M3204I

c.9612G>A

1 paper

NM_001148.6

p.M3204I

c.9612G>C

1 paper

NM_001148.6

p.M3204I

c.9612G>T

1 paper

NM_001148.6

p.E3189V

c.9566A>T

1 paper

NM_001148.6

p.E3216E

c.9648A>G

1 paper

NM_001148.6

p.L3181fs

c.9541_9542fs

1 paper

NM_001148.6

p.L3181_L3182delFs

c.9543_9546del4

1 paper

NM_001148.6

p.T3222N

c.9665C>A

1 paper

NM_001148.6

p.D3177H

c.9529G>C

3 papers

NM_001148.6

p.D3176Y

c.9526G>T

1 paper

NM_001148.6

p.V3175M

c.9523G>A