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

3 papers

NM_001148.6

p.R2747H

c.8240G>A

Surrounding Variants

1 paper

NM_001148.6

p.R2747C

c.8239C>T

1 paper

NM_001148.6

p.H2748N

c.8242C>A

1 paper

NM_001148.6

p.E2755K

c.8263G>A

2 papers

NM_001148.6

p.E2728K

c.8182G>A

1 paper

NM_001148.6

p.D2767N

c.8299G>A

1 paper

NM_001148.6

p.M2722I

c.8166G>A

1 paper

NM_001148.6

p.M2722I

c.8166G>C

1 paper

NM_001148.6

p.M2722I

c.8166G>T

1 paper

NM_001148.6

p.M2722T

c.8165T>C

1 paper

NM_001148.6

p.H2775R

c.8324A>G

2 papers

NM_001148.6

p.G2776*

c.8326G>T

2 papers

NM_001148.6

p.C2777F

c.8330G>T