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.V2096F

c.6286G>T

Surrounding Variants

1 paper

NM_001148.6

p.Q2097fs

c.6289_6290fs

1 paper

NM_001148.6

p.I2092M

c.6276A>G

1 paper

NM_001148.6

p.S2104T

c.6311G>C

2 papers

NM_001148.6

p.R2106G

c.6316A>G

1 paper

NM_001148.6

p.P2111T

c.6331C>A

1 paper

NM_001148.6

p.P2111H

c.6332C>A

2 papers

NM_001148.6

p.K2076N

c.6228G>C

2 papers

NM_001148.6

p.K2076N

c.6228G>T

1 paper

NM_001148.6

p.V2075A

c.6224T>C

1 paper

NM_001148.6

p.E2118K

c.6352G>A

1 paper

NM_001148.6

p.M2122V

c.6364A>G

6 papers

NM_001148.6

p.R2069H

c.6206G>A