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.D2148Y

c.6442G>T

Surrounding Variants

1 paper

NM_001148.6

p.V2139A

c.6416T>C

1 paper

NM_001148.6

p.E2138D

c.6414G>C

1 paper

NM_001148.6

p.E2138D

c.6414G>T

1 paper

NM_001148.6

p.E2138Q

c.6412G>C

1 paper

NM_001148.6

p.E2138delFs

c.6413delA

1 paper

NM_001148.6

p.K2161Q

c.6481A>C

1 paper

NM_001148.6

p.K2161E

c.6481A>G

1 paper

NM_001148.6

p.L2164V

c.6490C>G

1 paper

NM_001148.6

p.R2130K

c.6389G>A

1 paper

NM_001148.6

p.V2169I

c.6505G>A

1 paper

NM_001148.6

p.M2122V

c.6364A>G

1 paper

NM_001148.6

p.E2118K

c.6352G>A