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

2 papers

NM_001148.6

p.A2311delFs

c.6933delC

Surrounding Variants

1 paper

NM_001148.6

p.T2312fs

c.6934_6935fs

1 paper

NM_001148.6

p.K2309N

c.6927A>C

1 paper

NM_001148.6

p.K2309N

c.6927A>T

1 paper

NM_001148.6

p.T2304T

c.6912T>C

1 paper

NM_001148.6

p.S2320I

c.6959G>T

1 paper

NM_001148.6

p.P2321T

c.6961C>A

1 paper

NM_001148.6

p.D2299V

c.6896A>T

1 paper

NM_001148.6

p.D2325H

c.6973G>C

1 paper

NM_001148.6

p.D2326G

c.6977A>G

1 paper

NM_001148.6

p.T2295A

c.6883A>G

1 paper

NM_001148.6

p.G2293D

c.6878G>A

1 paper

NM_001148.6

p.E2291E

c.6873G>A