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.V3033I

c.9097G>A

Surrounding Variants

4 papers

NM_001148.6

p.A3021T

c.9061G>A

1 paper

NM_001148.6

p.S3046N

c.9137G>A

3 papers

NM_001148.6

p.R3049W

c.9145C>T

5 papers

NM_001148.6

p.E3016K

c.9046G>A

1 paper

NM_001148.6

p.A3054G

c.9161C>G

1 paper

NM_001148.6

p.V3011fs

c.9031_9032fs

1 paper

NM_001148.6

p.S3010_V3011insFs

c.9028_9031dup4

1 paper

NM_001148.6

p.R3058C

c.9172C>T

1 paper

NM_001148.6

p.V3059L

c.9175G>C

1 paper

NM_001148.6

p.V3059L

c.9175G>T

1 paper

NM_001148.6

p.W3004*

c.9012G>A

1 paper

NM_001148.6

p.W3004*

c.9011G>A