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.G2352_Q2353del0

c.7054_7059del6

Surrounding Variants

1 paper

NM_001148.6

p.C2349_Q2353delFs

c.7045_7058del14

1 paper

NM_001148.6

p.A2348V

c.7043C>T

1 paper

NM_001148.6

p.R2354C

c.7060C>T

1 paper

NM_001148.6

p.R2354H

c.7061G>A

1 paper

NM_001148.6

p.G2342V

c.7025G>T

1 paper

NM_001148.6

p.K2362Q

c.7084A>C

1 paper

NM_001148.6

p.P2340S

c.7018C>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.A2336S

c.7006G>T

1 paper

NM_001148.6

p.E2368K

c.7102G>A

1 paper

NM_001148.6

p.V2369F

c.7105G>T