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.V1951A

c.5852T>C

Surrounding Variants

4 papers

NM_001148.6

p.V1951L

c.5851G>C

4 papers

NM_001148.6

p.V1951L

c.5851G>T

1 paper

NM_001148.6

p.P1950fs

c.5848_5849fs

1 paper

NM_001148.6

p.T1953I

c.5858C>T

1 paper

NM_001148.6

p.Q1949insFs

c.5847dupA

1 paper

NM_001148.6

p.D1946N

c.5836G>A

1 paper

NM_001148.6

p.T1945M

c.5834C>T

1 paper

NM_001148.6

p.E1958*

c.5872G>T

1 paper

NM_001148.6

p.R1944K

c.5831G>A

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.S1942S

c.5826C>T