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.M1017I

c.3051G>C

Surrounding Variants

1 paper

NM_001148.6

p.M1017I

c.3051G>A

1 paper

NM_001148.6

p.M1017I

c.3051G>T

1 paper

NM_001148.6

p.P1018H

c.3053C>A

1 paper

NM_001148.6

p.A1015T

c.3043G>A

1 paper

NM_001148.6

p.E1022K

c.3064G>A

2 papers

NM_001148.6

p.G1023R

c.3067G>A

2 papers

NM_001148.6

p.G1023R

c.3067G>C

1 paper

NM_001148.6

p.G1025A

c.3074G>C

4 papers

NM_001148.6

p.A1027D

c.3080C>A

1 paper

NM_001148.6

p.A1027V

c.3080C>T

3 papers

NM_001148.6

p.R1007R

c.3021A>T

3 papers

NM_001148.6

p.R1007*

c.3019C>T