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.D2325H

c.6973G>C

Surrounding Variants

1 paper

NM_001148.6

p.D2326G

c.6977A>G

1 paper

NM_001148.6

p.P2321T

c.6961C>A

1 paper

NM_001148.6

p.S2320I

c.6959G>T

1 paper

NM_001148.6

p.A2336S

c.7006G>T

1 paper

NM_001148.6

p.K2337E

c.7009A>G

1 paper

NM_001148.6

p.K2337*

c.7009A>T

1 paper

NM_001148.6

p.T2312fs

c.6934_6935fs

2 papers

NM_001148.6

p.A2311delFs

c.6933delC

1 paper

NM_001148.6

p.P2340S

c.7018C>T

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.G2342V

c.7025G>T