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.E3423insFs

c.10268dupA

Surrounding Variants

1 paper

NM_001148.6

p.A3421D

c.10262C>A

1 paper

NM_001148.6

p.A3421V

c.10262C>T

1 paper

NM_001148.6

p.A3421S

c.10261G>T

9 papers

NM_001148.6

p.E3429V

c.10286A>T

1 paper

NM_001148.6

p.E3430A

c.10289A>C

1 paper

NM_001148.6

p.E3412K

c.10234G>A

1 paper

NM_001148.6

p.T3411S

c.10232C>G

1 paper

NM_001148.6

p.T3411S

c.10231A>T

3 papers

NM_001148.6

p.I3437T

c.10310T>C

1 paper

NM_001148.6

p.L3438delFs

c.10312delC

1 paper

NM_001148.6

p.R3408Q

c.10223G>A

1 paper

NM_001148.6

p.T3439fs

c.10315_10316fs