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.G3077delFs

c.9230delG

Surrounding Variants

1 paper

NM_001148.6

p.G3077fs

c.9229_9230fs

2 papers

NM_001148.6

p.M3070I

c.9210G>A

2 papers

NM_001148.6

p.M3070I

c.9210G>C

2 papers

NM_001148.6

p.M3070I

c.9210G>T

1 paper

NM_001148.6

p.T3082I

c.9245C>T

1 paper

NM_001148.6

p.R3086R

c.9258G>A

1 paper

NM_001148.6

p.R3086S

c.9258G>C

5 papers

NM_001148.6

p.E3062G

c.9185A>G

4 papers

NM_001148.6

p.E3062*

c.9184G>T

1 paper

NM_001148.6

p.E3091*

c.9271G>T

1 paper

NM_001148.6

p.V3059L

c.9175G>C

1 paper

NM_001148.6

p.V3059L

c.9175G>T