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.L2510R

c.7529T>G

Surrounding Variants

1 paper

NM_001148.6

p.D2512V

c.7535A>T

1 paper

NM_001148.6

p.R2506Q

c.7517G>A

2 papers

NM_001148.6

p.R2506W

c.7516C>T

1 paper

NM_001148.6

p.S2516G

c.7546A>G

1 paper

NM_001148.6

p.E2501D

c.7503A>C

1 paper

NM_001148.6

p.E2501D

c.7503A>T

1 paper

NM_001148.6

p.T2500R

c.7499C>G

2 papers

NM_001148.6

p.T2500M

c.7499C>T

1 paper

NM_001148.6

p.S2521C

c.7561A>T

1 paper

NM_001148.6

p.E2523Q

c.7567G>C

1 paper

NM_001148.6

p.P2490_A2491insT

c.7468_7472ins3

1 paper

NM_001148.6

p.P2535T

c.7603C>A