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

2 papers

NM_001148.6

p.R1991P

c.5972G>C

Surrounding Variants

2 papers

NM_001148.6

p.R1991L

c.5972G>T

1 paper

NM_001148.6

p.R1991W

c.5971C>T

5 papers

NM_001148.6

p.M1988T

c.5963T>C

1 paper

NM_001148.6

p.M1988L

c.5962A>C

1 paper

NM_001148.6

p.M1988L

c.5962A>T

1 paper

NM_001148.6

p.E1986G

c.5957A>G

1 paper

NM_001148.6

p.F1997F

c.5991C>T

1 paper

NM_001148.6

p.K1980*

c.5938A>T

1 paper

NM_001148.6

p.S1979_E1985del7

c.5935_5954del21

1 paper

NM_001148.6

p.P1974H

c.5921C>A

1 paper

NM_001148.6

p.Q1972K

c.5914C>A

1 paper

NM_001148.6

p.L2010L

c.6030C>A