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

4 papers

NM_001148.6

p.V1593F

c.4777G>T

Surrounding Variants

1 paper

NM_001148.6

p.W1592*

c.4776G>A

1 paper

NM_001148.6

p.W1592*

c.4775G>A

1 paper

NM_001148.6

p.I1594M

c.4782T>G

1 paper

NM_001148.6

p.D1597delFs

c.4791delT

1 paper

NM_001148.6

p.V1588delFs

c.4764delT

1 paper

NM_001148.6

p.G1586V

c.4757G>T

1 paper

NM_001148.6

p.G1586fs

c.4756_4757fs

1 paper

NM_001148.6

p.R1585T

c.4754G>C

1 paper

NM_001148.6

p.R1585_G1586delFs

c.4755_4756delAG

5 papers

NM_001148.6

p.R1582Q

c.4745G>A

3 papers

NM_001148.6

p.R1582W

c.4744C>T

4 papers

NM_001148.6

p.R1604K

c.4811G>A