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.V3306A

c.9917T>C

Surrounding Variants

1 paper

NM_001148.6

p.V3306I

c.9916G>A

1 paper

NM_001148.6

p.R3307R

c.9921G>A

1 paper

NM_001148.6

p.P3310L

c.9929C>T

9 papers

NM_001148.6

p.S3300R

c.9900C>A

9 papers

NM_001148.6

p.S3300R

c.9900C>G

9 papers

NM_001148.6

p.S3300R

c.9898A>C

1 paper

NM_001148.6

p.E3320Q

c.9958G>C

1 paper

NM_001148.6

p.P3291R

c.9872C>G

1 paper

NM_001148.6

p.P3291S

c.9871C>T

14 papers

NM_001148.6

p.I3285T

c.9854T>C

1 paper

NM_001148.6

p.Q3281R

c.9842A>G

1 paper

NM_001148.6

p.Q3281E

c.9841C>G