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.E1934V

c.5801A>T

Surrounding Variants

1 paper

NM_001148.6

p.G1931V

c.5792G>T

1 paper

NM_001148.6

p.S1929*

c.5786C>A

3 papers

NM_001148.6

p.S1929L

c.5786C>T

1 paper

NM_001148.6

p.P1926L

c.5777C>T

1 paper

NM_001148.6

p.S1942S

c.5826C>T

1 paper

NM_001148.6

p.G1943R

c.5827G>A

1 paper

NM_001148.6

p.G1943R

c.5827G>C

1 paper

NM_001148.6

p.H1925P

c.5774A>C

1 paper

NM_001148.6

p.K1924_H1925insFs

c.5772_5773ins5

1 paper

NM_001148.6

p.R1944K

c.5831G>A

1 paper

NM_001148.6

p.K1924fs

c.5770_5771fs

1 paper

NM_001148.6

p.T1945M

c.5834C>T